AN INHERITED DEFECT IN ALDOSTERONE BIOSYNTHESIS CAUSED BY A MUTATION IN OR NEAR THE GENE FOR STEROID 11-HYDROXYLASE

被引:46
作者
GLOBERMAN, H
ROSLER, A
THEODOR, R
NEW, MI
WHITE, PC
机构
[1] CORNELL UNIV,MED CTR,COLL MED,DIV PEDIAT ENDOCRINOL,NEW YORK,NY 10021
[2] HADASSAH UNIV HOSP,DEPT ENDOCRINOL,JERUSALEM,ISRAEL
[3] CHAIM SHEBA MED CTR,DEPT PEDIAT,IL-52621 TEL HASHOMER,ISRAEL
关键词
D O I
10.1056/NEJM198811033191804
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1193 / 1197
页数:5
相关论文
共 17 条
[1]   CLONING OF CDNA-ENCODING STEROID 11-BETA-HYDROXYLASE (P450C11) [J].
CHUA, SC ;
SZABO, P ;
VITEK, A ;
GRZESCHIK, KH ;
JOHN, M ;
WHITE, PC .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (20) :7193-7197
[2]  
COHEN T, 1977, CLIN GENET, V11, P25
[3]   COMBINED ANALYSIS OF GENETIC SEGREGATION AND LINKAGE UNDER AN OLIGOGENIC MODEL [J].
MACLEAN, CJ ;
MORTON, NE ;
YEE, S .
COMPUTERS AND BIOMEDICAL RESEARCH, 1984, 17 (05) :471-480
[4]   LABELING DEOXYRIBONUCLEIC-ACID TO HIGH SPECIFIC ACTIVITY INVITRO BY NICK TRANSLATION WITH DNA-POLYMERASE I [J].
RIGBY, PWJ ;
DIECKMANN, M ;
RHODES, C ;
BERG, P .
JOURNAL OF MOLECULAR BIOLOGY, 1977, 113 (01) :237-251
[5]  
ROSLER A, 1984, J CLIN ENDOCR METAB, V59, P689
[6]  
ROSLER A, 1977, J CLIN ENDOCR METAB, V44, P279, DOI 10.1210/jcem-44-2-279
[7]  
ROSLER A, 1973, LANCET, V1, P959
[8]   DETECTION OF SPECIFIC SEQUENCES AMONG DNA FRAGMENTS SEPARATED BY GEL-ELECTROPHORESIS [J].
SOUTHERN, EM .
JOURNAL OF MOLECULAR BIOLOGY, 1975, 98 (03) :503-+
[9]  
ULICK S, 1984, PEDIATRIC ADOLESCENT, V13, P145
[10]   ISOLATED ALDOSTERONE DEFICIENCY IN MAN - ACQUIRED AND INBORN-ERRORS IN THE BIOSYNTHESIS OR ACTION OF ALDOSTERONE [J].
VELDHUIS, JD ;
MELBY, JC .
ENDOCRINE REVIEWS, 1981, 2 (04) :495-517