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CFTR NONSENSE MUTATIONS G542X AND W1282X ASSOCIATED WITH SEVERE REDUCTION OF CFTR MESSENGER-RNA IN NASAL EPITHELIAL-CELLS
被引:87
作者
:
HAMOSH, A
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, BALTIMORE, MD 21287 USA
HAMOSH, A
ROSENSTEIN, BJ
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, BALTIMORE, MD 21287 USA
ROSENSTEIN, BJ
CUTTING, GR
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, BALTIMORE, MD 21287 USA
CUTTING, GR
机构
:
[1]
JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, BALTIMORE, MD 21287 USA
[2]
JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, BALTIMORE, MD 21287 USA
[3]
JOHNS HOPKINS UNIV, SCH MED, DEPT MED, BALTIMORE, MD 21287 USA
来源
:
HUMAN MOLECULAR GENETICS
|
1992年
/ 1卷
/ 07期
关键词
:
D O I
:
10.1093/hmg/1.7.542
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:542 / 544
页数:3
相关论文
共 16 条
[1]
NONSENSE MUTATIONS IN THE HUMAN BETA-GLOBIN GENE AFFECT MESSENGER-RNA METABOLISM
BASERGA, SJ
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,DEPT INTERNAL MED,NEW HAVEN,CT 06510
BASERGA, SJ
BENZ, EJ
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,DEPT INTERNAL MED,NEW HAVEN,CT 06510
BENZ, EJ
[J].
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1988,
85
(07)
: 2056
-
2060
[2]
BEAUDET AL, 1991, AM J HUM GENET, V48, P1213
[3]
A CHILD, HOMOZYGOUS FOR A STOP CODON IN EXON-11, SHOWS MILDER CYSTIC-FIBROSIS SYMPTOMS THAN HER HETEROZYGOUS NEPHEW
CUPPENS, H
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
CUPPENS, H
MARYNEN, P
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
MARYNEN, P
DEBOECK, C
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
DEBOECK, C
DEBAETS, F
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
DEBAETS, F
EGGERMONT, E
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
EGGERMONT, E
VANDENBERGHE, H
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
VANDENBERGHE, H
CASSIMAN, JJ
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0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
CASSIMAN, JJ
[J].
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719
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A CLUSTER OF CYSTIC-FIBROSIS MUTATIONS IN THE 1ST NUCLEOTIDE-BINDING FOLD OF THE CYSTIC-FIBROSIS CONDUCTANCE REGULATOR PROTEIN
CUTTING, GR
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0
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0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
CUTTING, GR
KASCH, LM
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0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
KASCH, LM
ROSENSTEIN, BJ
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0
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JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
ROSENSTEIN, BJ
ZIELENSKI, J
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0
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机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
ZIELENSKI, J
TSUI, LC
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
TSUI, LC
ANTONARAKIS, SE
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0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
ANTONARAKIS, SE
KAZAZIAN, HH
论文数:
0
引用数:
0
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0
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JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
KAZAZIAN, HH
[J].
NATURE,
1990,
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2 PATIENTS WITH CYSTIC-FIBROSIS, NONSENSE MUTATIONS IN EACH CYSTIC-FIBROSIS GENE, AND MILD PULMONARY-DISEASE
CUTTING, GR
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
CUTTING, GR
KASCH, LM
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
KASCH, LM
ROSENSTEIN, BJ
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
ROSENSTEIN, BJ
TSUI, LC
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
TSUI, LC
KAZAZIAN, HH
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
KAZAZIAN, HH
ANTONARAKIS, SE
论文数:
0
引用数:
0
h-index:
0
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JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
ANTONARAKIS, SE
[J].
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323
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HAMOSH A, 1991, J CLIN INVEST, V88, P1800
[7]
3 NOVEL MUTATIONS IN THE CYSTIC-FIBROSIS GENE DETECTED BY CHEMICAL CLEAVAGE - ANALYSIS OF VARIANT SPLICING AND A NONSENSE MUTATION
JONES, CT
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0
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UNIV EDINBURGH, HUMAN GENET UNIT, EDINBURGH EH4 2XU, MIDLOTHIAN, Scotland
JONES, CT
MCINTOSH, I
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MCINTOSH, I
KESTON, M
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UNIV EDINBURGH, HUMAN GENET UNIT, EDINBURGH EH4 2XU, MIDLOTHIAN, Scotland
KESTON, M
FERGUSON, A
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UNIV EDINBURGH, HUMAN GENET UNIT, EDINBURGH EH4 2XU, MIDLOTHIAN, Scotland
FERGUSON, A
BROCK, DJH
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KADOWAKI, T
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KADOWAKI, H
RECHLER, MM
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NIDDKD,DIABET BRANCH,BLDG 10,ROOM 8S-243,BETHESDA,MD 20892
RECHLER, MM
SERRANORIOS, M
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KEREM, BS
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UNIV MICHIGAN,HOWARD HUGHES MED INST,ANN ARBOR,MI 48109
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GAZIT, E
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UNIV MICHIGAN,HOWARD HUGHES MED INST,ANN ARBOR,MI 48109
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UNIV MICHIGAN,HOWARD HUGHES MED INST,ANN ARBOR,MI 48109
KENNEDY, D
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UNIV MICHIGAN,HOWARD HUGHES MED INST,ANN ARBOR,MI 48109
RIORDAN, JR
COLLINS, FS
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UNIV MICHIGAN,HOWARD HUGHES MED INST,ANN ARBOR,MI 48109
COLLINS, FS
ROMMENS, JM
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UNIV MICHIGAN,HOWARD HUGHES MED INST,ANN ARBOR,MI 48109
ROMMENS, JM
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KEREM, BS
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UNIV PITTSBURGH, DEPT HUMAN GENET, PITTSBURGH, PA 15261 USA
KEREM, BS
ROMMENS, JM
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UNIV PITTSBURGH, DEPT HUMAN GENET, PITTSBURGH, PA 15261 USA
ROMMENS, JM
BUCHANAN, JA
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UNIV PITTSBURGH, DEPT HUMAN GENET, PITTSBURGH, PA 15261 USA
BUCHANAN, JA
MARKIEWICZ, D
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UNIV PITTSBURGH, DEPT HUMAN GENET, PITTSBURGH, PA 15261 USA
MARKIEWICZ, D
COX, TK
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UNIV PITTSBURGH, DEPT HUMAN GENET, PITTSBURGH, PA 15261 USA
COX, TK
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UNIV PITTSBURGH, DEPT HUMAN GENET, PITTSBURGH, PA 15261 USA
CHAKRAVARTI, A
BUCHWALD, M
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UNIV PITTSBURGH, DEPT HUMAN GENET, PITTSBURGH, PA 15261 USA
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TSUI, LC
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TSUI, LC
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SCIENCE,
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←
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2
→
共 16 条
[1]
NONSENSE MUTATIONS IN THE HUMAN BETA-GLOBIN GENE AFFECT MESSENGER-RNA METABOLISM
BASERGA, SJ
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,DEPT INTERNAL MED,NEW HAVEN,CT 06510
BASERGA, SJ
BENZ, EJ
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,DEPT INTERNAL MED,NEW HAVEN,CT 06510
BENZ, EJ
[J].
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
1988,
85
(07)
: 2056
-
2060
[2]
BEAUDET AL, 1991, AM J HUM GENET, V48, P1213
[3]
A CHILD, HOMOZYGOUS FOR A STOP CODON IN EXON-11, SHOWS MILDER CYSTIC-FIBROSIS SYMPTOMS THAN HER HETEROZYGOUS NEPHEW
CUPPENS, H
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
CUPPENS, H
MARYNEN, P
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
MARYNEN, P
DEBOECK, C
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
DEBOECK, C
DEBAETS, F
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
DEBAETS, F
EGGERMONT, E
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
EGGERMONT, E
VANDENBERGHE, H
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
VANDENBERGHE, H
CASSIMAN, JJ
论文数:
0
引用数:
0
h-index:
0
机构:
CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,CAMPUS GASTHUISBERG O&N,HERESTR 49,B-3000 LOUVAIN,BELGIUM
CASSIMAN, JJ
[J].
JOURNAL OF MEDICAL GENETICS,
1990,
27
(11)
: 717
-
719
[4]
A CLUSTER OF CYSTIC-FIBROSIS MUTATIONS IN THE 1ST NUCLEOTIDE-BINDING FOLD OF THE CYSTIC-FIBROSIS CONDUCTANCE REGULATOR PROTEIN
CUTTING, GR
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
CUTTING, GR
KASCH, LM
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
KASCH, LM
ROSENSTEIN, BJ
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
ROSENSTEIN, BJ
ZIELENSKI, J
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
ZIELENSKI, J
TSUI, LC
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
TSUI, LC
ANTONARAKIS, SE
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
ANTONARAKIS, SE
KAZAZIAN, HH
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
KAZAZIAN, HH
[J].
NATURE,
1990,
346
(6282)
: 366
-
369
[5]
2 PATIENTS WITH CYSTIC-FIBROSIS, NONSENSE MUTATIONS IN EACH CYSTIC-FIBROSIS GENE, AND MILD PULMONARY-DISEASE
CUTTING, GR
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
CUTTING, GR
KASCH, LM
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
KASCH, LM
ROSENSTEIN, BJ
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
ROSENSTEIN, BJ
TSUI, LC
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
TSUI, LC
KAZAZIAN, HH
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
KAZAZIAN, HH
ANTONARAKIS, SE
论文数:
0
引用数:
0
h-index:
0
机构:
JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205
ANTONARAKIS, SE
[J].
NEW ENGLAND JOURNAL OF MEDICINE,
1990,
323
(24)
: 1685
-
1689
[6]
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