A NOVEL MISSENSE MUTATION IN THE TYPE-II 3-BETA-HYDROXYSTEROID DEHYDROGENASE GENE IN A FAMILY WITH CLASSICAL SALT-WASTING CONGENITAL ADRENAL-HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY

被引：16

作者：

KATSUMATA, N ^{[1
]}

TANAE, A ^{[1
]}

YASUNAGA, T ^{[1
]}

HORIKAWA, R ^{[1
]}

TANAKA, T ^{[1
]}

HIBI, I ^{[1
]}

机构：

[1] NATL CHILDRENS HOSP, DIV ENDOCRINOL & METAB, SETAGAYA KU, TOKYO 154, JAPAN

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 04期

关键词：

D O I：

10.1093/hmg/4.4.745

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

页码：745 / 746

页数：2

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