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A NOVEL SPLICE-SITE MUTATION IN INTRON-1 OF THE GALNS GENE IN A JAPANESE PATIENT WITH MUCOPOLYSACCHARIDOSIS IVA
被引:25
作者
:
TOMATSU, S
论文数:
0
引用数:
0
h-index:
0
TOMATSU, S
FUKUDA, S
论文数:
0
引用数:
0
h-index:
0
FUKUDA, S
OGAWA, T
论文数:
0
引用数:
0
h-index:
0
OGAWA, T
KATO, Z
论文数:
0
引用数:
0
h-index:
0
KATO, Z
ISOGAI, K
论文数:
0
引用数:
0
h-index:
0
ISOGAI, K
KONDO, N
论文数:
0
引用数:
0
h-index:
0
KONDO, N
SUZUKI, Y
论文数:
0
引用数:
0
h-index:
0
SUZUKI, Y
SHIMOZAWA, N
论文数:
0
引用数:
0
h-index:
0
SHIMOZAWA, N
SUKEGAWA, K
论文数:
0
引用数:
0
h-index:
0
SUKEGAWA, K
ORII, T
论文数:
0
引用数:
0
h-index:
0
ORII, T
机构
:
来源
:
HUMAN MOLECULAR GENETICS
|
1994年
/ 3卷
/ 08期
关键词
:
D O I
:
10.1093/hmg/3.8.1427
中图分类号
:
Q5 [生物化学];
Q7 [分子生物学];
学科分类号
:
071010 ;
081704 ;
摘要
:
引用
收藏
页码:1427 / 1428
页数:2
相关论文
共 5 条
[1]
MUCOPOLYSACCHARIDOSIS TYPE-IVA - N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE EXONIC POINT MUTATIONS IN CLASSICAL MORQUIO AND MILD CASES
[J].
FUKUDA, S
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
FUKUDA, S
;
TOMATSU, S
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
TOMATSU, S
;
MASUE, M
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
MASUE, M
;
SUKEGAWA, K
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
SUKEGAWA, K
;
IWATA, H
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
IWATA, H
;
OGAWA, T
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
OGAWA, T
;
NAKASHIMA, Y
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
NAKASHIMA, Y
;
HORI, T
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
HORI, T
;
YAMAGISHI, A
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
YAMAGISHI, A
;
HANYU, Y
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
HANYU, Y
;
MOROOKA, K
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
MOROOKA, K
;
KIMAN, T
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
KIMAN, T
;
HASHIMOTO, T
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
HASHIMOTO, T
;
ORII, T
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
ORII, T
.
JOURNAL OF CLINICAL INVESTIGATION,
1992,
90
(03)
:1049
-1053
[2]
MUCOPOLYSACCHARIDOSIS-IV-A - MOLECULAR-CLONING OF THE HUMAN N-ACETYLGALACTOSAMINE-6-SULFATASE GENE (GALNS) AND ANALYSIS OF THE 5'-FLANKING REGION
[J].
NAKASHIMA, Y
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
NAKASHIMA, Y
;
TOMATSU, S
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
TOMATSU, S
;
HORI, T
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
HORI, T
;
FUKUDA, S
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
FUKUDA, S
;
SUKEGAWA, K
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
SUKEGAWA, K
;
KONDO, N
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
KONDO, N
;
SUZUKI, Y
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
SUZUKI, Y
;
SHIMOZAWA, N
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
SHIMOZAWA, N
;
ORII, T
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
ORII, T
.
GENOMICS,
1994,
20
(01)
:99
-104
[3]
ORII T, 1986, Asian Medical Journal, V29, P89
[4]
RAPID AND SENSITIVE DETECTION OF POINT MUTATIONS AND DNA POLYMORPHISMS USING THE POLYMERASE CHAIN-REACTION
[J].
ORITA, M
论文数:
0
引用数:
0
h-index:
0
机构:
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
ORITA, M
;
SUZUKI, Y
论文数:
0
引用数:
0
h-index:
0
机构:
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
SUZUKI, Y
;
SEKIYA, T
论文数:
0
引用数:
0
h-index:
0
机构:
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
SEKIYA, T
;
HAYASHI, K
论文数:
0
引用数:
0
h-index:
0
机构:
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
HAYASHI, K
.
GENOMICS,
1989,
5
(04)
:874
-879
[5]
MORQUIO-DISEASE - ISOLATION, CHARACTERIZATION AND EXPRESSION OF FULL-LENGTH CDNA FOR HUMAN N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE
[J].
TOMATSU, S
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
TOMATSU, S
;
FUKUDA, S
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
FUKUDA, S
;
MASUE, M
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
MASUE, M
;
SUKEGAWA, K
论文数:
0
引用数:
0
h-index:
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机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
SUKEGAWA, K
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FUKAO, T
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FUKAO, T
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HORI, T
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IWATA, H
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OGAWA, T
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机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
OGAWA, T
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NAKASHIMA, Y
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引用数:
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SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
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引用数:
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HAYASHI, Y
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引用数:
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SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
ORII, T
.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,
1991,
181
(02)
:677
-683
←
1
→
共 5 条
[1]
MUCOPOLYSACCHARIDOSIS TYPE-IVA - N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE EXONIC POINT MUTATIONS IN CLASSICAL MORQUIO AND MILD CASES
[J].
FUKUDA, S
论文数:
0
引用数:
0
h-index:
0
机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
FUKUDA, S
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TOMATSU, S
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0
引用数:
0
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TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
TOMATSU, S
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MASUE, M
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TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
MASUE, M
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引用数:
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h-index:
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引用数:
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引用数:
0
h-index:
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机构:
TOHO UNIV,SCH MED,DEPT PEDIAT 1,TOKYO 153,JAPAN
ORII, T
.
JOURNAL OF CLINICAL INVESTIGATION,
1992,
90
(03)
:1049
-1053
[2]
MUCOPOLYSACCHARIDOSIS-IV-A - MOLECULAR-CLONING OF THE HUMAN N-ACETYLGALACTOSAMINE-6-SULFATASE GENE (GALNS) AND ANALYSIS OF THE 5'-FLANKING REGION
[J].
NAKASHIMA, Y
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
NAKASHIMA, Y
;
TOMATSU, S
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
TOMATSU, S
;
HORI, T
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
HORI, T
;
FUKUDA, S
论文数:
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引用数:
0
h-index:
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机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
FUKUDA, S
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SUKEGAWA, K
论文数:
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引用数:
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h-index:
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机构:
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SUKEGAWA, K
;
KONDO, N
论文数:
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引用数:
0
h-index:
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机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
KONDO, N
;
SUZUKI, Y
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
SUZUKI, Y
;
SHIMOZAWA, N
论文数:
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引用数:
0
h-index:
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机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
SHIMOZAWA, N
;
ORII, T
论文数:
0
引用数:
0
h-index:
0
机构:
Department of Pediatrics, Gifu University School of Medicine, Gifu 500
ORII, T
.
GENOMICS,
1994,
20
(01)
:99
-104
[3]
ORII T, 1986, Asian Medical Journal, V29, P89
[4]
RAPID AND SENSITIVE DETECTION OF POINT MUTATIONS AND DNA POLYMORPHISMS USING THE POLYMERASE CHAIN-REACTION
[J].
ORITA, M
论文数:
0
引用数:
0
h-index:
0
机构:
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
ORITA, M
;
SUZUKI, Y
论文数:
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引用数:
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h-index:
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机构:
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
SUZUKI, Y
;
SEKIYA, T
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NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
SEKIYA, T
;
HAYASHI, K
论文数:
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引用数:
0
h-index:
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机构:
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
NATL CANC CTR,RES INST,DIV ONCOGENE,1-1 TSUKIJI 5-CHOME,CHUO KU,TOKYO 104,JAPAN
HAYASHI, K
.
GENOMICS,
1989,
5
(04)
:874
-879
[5]
MORQUIO-DISEASE - ISOLATION, CHARACTERIZATION AND EXPRESSION OF FULL-LENGTH CDNA FOR HUMAN N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE
[J].
TOMATSU, S
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
TOMATSU, S
;
FUKUDA, S
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
FUKUDA, S
;
MASUE, M
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
MASUE, M
;
SUKEGAWA, K
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
SUKEGAWA, K
;
FUKAO, T
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0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
FUKAO, T
;
YAMAGISHI, A
论文数:
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引用数:
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0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
YAMAGISHI, A
;
HORI, T
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
HORI, T
;
IWATA, H
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
IWATA, H
;
OGAWA, T
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
OGAWA, T
;
NAKASHIMA, Y
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
NAKASHIMA, Y
;
HANYU, Y
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
HANYU, Y
;
HASHIMOTO, T
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
HASHIMOTO, T
;
TITANI, K
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
TITANI, K
;
OYAMA, R
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
OYAMA, R
;
SUZUKI, M
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
SUZUKI, M
;
YAGI, K
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
YAGI, K
;
HAYASHI, Y
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
HAYASHI, Y
;
ORII, T
论文数:
0
引用数:
0
h-index:
0
机构:
SHINSHU UNIV,SCH MED,DEPT BIOCHEM,MATSUMOTO,NAGANO 390,JAPAN
ORII, T
.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,
1991,
181
(02)
:677
-683
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