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PRENATAL-DIAGNOSIS OF ORNITHINE CARBAMOYL TRANSFERASE DEFICIENCY USING A GENE SPECIFIC PROBE
被引:17
作者
:
PEMBREY, ME
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
PEMBREY, ME
OLD, JM
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
OLD, JM
LEONARD, JV
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
LEONARD, JV
RODECK, CH
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
RODECK, CH
WARREN, R
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
WARREN, R
DAVIES, KE
论文数:
0
引用数:
0
h-index:
0
机构:
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
DAVIES, KE
机构
:
[1]
INST CHILD HLTH,DEPT CHILD HLTH,LONDON WC1N 1EH,ENGLAND
[2]
UNIV OXFORD,NUFFIELD DEPT CLIN MED,OXFORD,ENGLAND
[3]
UNIV LONDON KINGS COLL,SCH MED & DENT,HARRIS BIRTHRIGHT RES CTR FETAL MED,LONDON WC2R 2LS,ENGLAND
来源
:
JOURNAL OF MEDICAL GENETICS
|
1985年
/ 22卷
/ 06期
关键词
:
D O I
:
10.1136/jmg.22.6.462
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
引用
收藏
页码:462 / 465
页数:4
相关论文
共 15 条
[1]
FAILURE OF PROTEIN LOADING TESTS TO IDENTIFY HETEROZYGOSITY FOR ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY
[J].
BECROFT, DMO
论文数:
0
引用数:
0
h-index:
0
机构:
MEM HOSP,HASTINGS,NEW ZEALAND
BECROFT, DMO
;
BARRY, DMJ
论文数:
0
引用数:
0
h-index:
0
机构:
MEM HOSP,HASTINGS,NEW ZEALAND
BARRY, DMJ
;
WEBSTER, DR
论文数:
0
引用数:
0
h-index:
0
机构:
MEM HOSP,HASTINGS,NEW ZEALAND
WEBSTER, DR
;
SIMMONDS, HA
论文数:
0
引用数:
0
h-index:
0
机构:
MEM HOSP,HASTINGS,NEW ZEALAND
SIMMONDS, HA
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1984,
7
(04)
:157
-159
[2]
ARGININE, AN INDISPENSABLE AMINO-ACID FOR PATIENTS WITH INBORN-ERRORS OF UREA SYNTHESIS
[J].
BRUSILOW, SW
论文数:
0
引用数:
0
h-index:
0
BRUSILOW, SW
.
JOURNAL OF CLINICAL INVESTIGATION,
1984,
74
(06)
:2144
-2148
[3]
GENE FOR OTC - CHARACTERIZATION AND LINKAGE TO DUCHENNE MUSCULAR-DYSTROPHY
[J].
DAVIES, KE
论文数:
0
引用数:
0
h-index:
0
DAVIES, KE
;
BRIAND, P
论文数:
0
引用数:
0
h-index:
0
BRIAND, P
;
IONASESCU, V
论文数:
0
引用数:
0
h-index:
0
IONASESCU, V
;
IONASESCU, G
论文数:
0
引用数:
0
h-index:
0
IONASESCU, G
;
WILLIAMSON, R
论文数:
0
引用数:
0
h-index:
0
WILLIAMSON, R
;
BROWN, C
论文数:
0
引用数:
0
h-index:
0
BROWN, C
;
CAVARD, C
论文数:
0
引用数:
0
h-index:
0
CAVARD, C
;
CATHELINEAU, L
论文数:
0
引用数:
0
h-index:
0
CATHELINEAU, L
.
NUCLEIC ACIDS RESEARCH,
1985,
13
(01)
:155
-165
[4]
DORKINS HR, HUM GENET
[5]
METABOLIC AND GENETIC STUDIES OF A FAMILY WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY
[J].
GOLDSTEIN, AS
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
GOLDSTEIN, AS
;
HOOGENRAAD, NJ
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
HOOGENRAAD, NJ
;
JOHNSON, JD
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
JOHNSON, JD
;
FUKANAGA, K
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
FUKANAGA, K
;
SWIERCZEWSKI, E
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
SWIERCZEWSKI, E
;
CANN, HM
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
CANN, HM
;
SUNSHINE, P
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
SUNSHINE, P
.
PEDIATRIC RESEARCH,
1974,
8
(01)
:5
-12
[6]
ORNITHINE CARBAMOYL TRANSFERASE DEFICIENCY - A NEUROPATHOLOGICAL STUDY
[J].
HARDING, BN
论文数:
0
引用数:
0
h-index:
0
机构:
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
HARDING, BN
;
LEONARD, JV
论文数:
0
引用数:
0
h-index:
0
机构:
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
LEONARD, JV
;
ERDOHAZI, M
论文数:
0
引用数:
0
h-index:
0
机构:
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
ERDOHAZI, M
.
EUROPEAN JOURNAL OF PEDIATRICS,
1984,
141
(04)
:215
-220
[7]
CHROMOSOME ANALYSIS OF 1ST TRIMESTER CHORIONIC VILLUS BIOPSIES PREPARED BY A MACERATION TECHNIQUE
[J].
HEATON, DE
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
HEATON, DE
;
CZEPULKOWSKI, BH
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
CZEPULKOWSKI, BH
;
HORWELL, DH
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
HORWELL, DH
;
COLEMAN, DV
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
COLEMAN, DV
.
PRENATAL DIAGNOSIS,
1984,
4
(04)
:279
-287
[8]
STRUCTURE AND EXPRESSION OF A COMPLEMENTARY-DNA FOR THE NUCLEAR CODED PRECURSOR OF HUMAN MITOCHONDRIAL ORNITHINE TRANSCARBAMYLASE
[J].
HORWICH, AL
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
HORWICH, AL
;
FENTON, WA
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
FENTON, WA
;
WILLIAMS, KR
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
WILLIAMS, KR
;
KALOUSEK, F
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
KALOUSEK, F
;
KRAUS, JP
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
KRAUS, JP
;
DOOLITTLE, RF
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
DOOLITTLE, RF
;
KONIGSBERG, W
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
KONIGSBERG, W
;
ROSENBERG, LE
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
ROSENBERG, LE
.
SCIENCE,
1984,
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OLD JM, 1985, LANCET, V1, P73
[10]
1ST-TRIMESTER CHORION BIOPSY
[J].
RODECK, CH
论文数:
0
引用数:
0
h-index:
0
RODECK, CH
;
MORSMAN, JM
论文数:
0
引用数:
0
h-index:
0
MORSMAN, JM
.
BRITISH MEDICAL BULLETIN,
1983,
39
(04)
:338
-342
←
1
2
→
共 15 条
[1]
FAILURE OF PROTEIN LOADING TESTS TO IDENTIFY HETEROZYGOSITY FOR ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY
[J].
BECROFT, DMO
论文数:
0
引用数:
0
h-index:
0
机构:
MEM HOSP,HASTINGS,NEW ZEALAND
BECROFT, DMO
;
BARRY, DMJ
论文数:
0
引用数:
0
h-index:
0
机构:
MEM HOSP,HASTINGS,NEW ZEALAND
BARRY, DMJ
;
WEBSTER, DR
论文数:
0
引用数:
0
h-index:
0
机构:
MEM HOSP,HASTINGS,NEW ZEALAND
WEBSTER, DR
;
SIMMONDS, HA
论文数:
0
引用数:
0
h-index:
0
机构:
MEM HOSP,HASTINGS,NEW ZEALAND
SIMMONDS, HA
.
JOURNAL OF INHERITED METABOLIC DISEASE,
1984,
7
(04)
:157
-159
[2]
ARGININE, AN INDISPENSABLE AMINO-ACID FOR PATIENTS WITH INBORN-ERRORS OF UREA SYNTHESIS
[J].
BRUSILOW, SW
论文数:
0
引用数:
0
h-index:
0
BRUSILOW, SW
.
JOURNAL OF CLINICAL INVESTIGATION,
1984,
74
(06)
:2144
-2148
[3]
GENE FOR OTC - CHARACTERIZATION AND LINKAGE TO DUCHENNE MUSCULAR-DYSTROPHY
[J].
DAVIES, KE
论文数:
0
引用数:
0
h-index:
0
DAVIES, KE
;
BRIAND, P
论文数:
0
引用数:
0
h-index:
0
BRIAND, P
;
IONASESCU, V
论文数:
0
引用数:
0
h-index:
0
IONASESCU, V
;
IONASESCU, G
论文数:
0
引用数:
0
h-index:
0
IONASESCU, G
;
WILLIAMSON, R
论文数:
0
引用数:
0
h-index:
0
WILLIAMSON, R
;
BROWN, C
论文数:
0
引用数:
0
h-index:
0
BROWN, C
;
CAVARD, C
论文数:
0
引用数:
0
h-index:
0
CAVARD, C
;
CATHELINEAU, L
论文数:
0
引用数:
0
h-index:
0
CATHELINEAU, L
.
NUCLEIC ACIDS RESEARCH,
1985,
13
(01)
:155
-165
[4]
DORKINS HR, HUM GENET
[5]
METABOLIC AND GENETIC STUDIES OF A FAMILY WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY
[J].
GOLDSTEIN, AS
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
GOLDSTEIN, AS
;
HOOGENRAAD, NJ
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
HOOGENRAAD, NJ
;
JOHNSON, JD
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
JOHNSON, JD
;
FUKANAGA, K
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
FUKANAGA, K
;
SWIERCZEWSKI, E
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
SWIERCZEWSKI, E
;
CANN, HM
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
CANN, HM
;
SUNSHINE, P
论文数:
0
引用数:
0
h-index:
0
机构:
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
STANFORD UNIV, MED CTR, DEPT PEDIAT, SECT DEV MED, STANFORD, CA 94305 USA
SUNSHINE, P
.
PEDIATRIC RESEARCH,
1974,
8
(01)
:5
-12
[6]
ORNITHINE CARBAMOYL TRANSFERASE DEFICIENCY - A NEUROPATHOLOGICAL STUDY
[J].
HARDING, BN
论文数:
0
引用数:
0
h-index:
0
机构:
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
HARDING, BN
;
LEONARD, JV
论文数:
0
引用数:
0
h-index:
0
机构:
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
LEONARD, JV
;
ERDOHAZI, M
论文数:
0
引用数:
0
h-index:
0
机构:
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
HOSP SICK CHILDREN,INST CHILD HLTH,LONDON WC1N 3JH,ENGLAND
ERDOHAZI, M
.
EUROPEAN JOURNAL OF PEDIATRICS,
1984,
141
(04)
:215
-220
[7]
CHROMOSOME ANALYSIS OF 1ST TRIMESTER CHORIONIC VILLUS BIOPSIES PREPARED BY A MACERATION TECHNIQUE
[J].
HEATON, DE
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
HEATON, DE
;
CZEPULKOWSKI, BH
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
CZEPULKOWSKI, BH
;
HORWELL, DH
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
HORWELL, DH
;
COLEMAN, DV
论文数:
0
引用数:
0
h-index:
0
机构:
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
ST MARYS HOSP,SCH MED,DEPT OBSTET,LONDON W2 1PG,ENGLAND
COLEMAN, DV
.
PRENATAL DIAGNOSIS,
1984,
4
(04)
:279
-287
[8]
STRUCTURE AND EXPRESSION OF A COMPLEMENTARY-DNA FOR THE NUCLEAR CODED PRECURSOR OF HUMAN MITOCHONDRIAL ORNITHINE TRANSCARBAMYLASE
[J].
HORWICH, AL
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
HORWICH, AL
;
FENTON, WA
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
FENTON, WA
;
WILLIAMS, KR
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
WILLIAMS, KR
;
KALOUSEK, F
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
KALOUSEK, F
;
KRAUS, JP
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
KRAUS, JP
;
DOOLITTLE, RF
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
DOOLITTLE, RF
;
KONIGSBERG, W
论文数:
0
引用数:
0
h-index:
0
机构:
YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510
KONIGSBERG, W
;
ROSENBERG, LE
论文数:
0
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