UNUSUAL HETEROZYGOTES OF CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY CONFIRMED BY HLA TISSUE TYPING

被引：17

作者：

ZACHMANN, M

PRADER, A

机构：

来源：

ACTA ENDOCRINOLOGICA | 1979年 / 92卷 / 03期

关键词：

D O I：

10.1530/acta.0.0920542

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In a previous publication, three relatives of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from two families were considered to be unusual heterozygotes rather than homozygotes with mild clinical manifestations. Their heterozygosity could now be confirmed by HLA tissue typing.

引用

页码：542 / 546

页数：5

共 4 条

[1]

DUPONT B, 1977, LANCET, V2, P1309

[2]

KNORR D, 1977, CONGENITAL ADRENAL H, P495

[3] GENETIC-MAPPING OF 21-HYDROXYLASE-DEFICIENCY GENE WITHIN HLA LINKAGE GROUP [J].

LEVINE, LS ;

ZACHMANN, M ;

NEW, MI ;

PRADER, A ;

POLLACK, MS ;

ONEILL, GJ ;

YANG, SY ;

OBERFIELD, SE ;

DUPONT, B .

NEW ENGLAND JOURNAL OF MEDICINE, 1978, 299 (17) :911-915

[4] UNUSUAL HETEROZYGOTES OF CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY [J].

ZACHMANN, M ;

PRADER, A .

ACTA ENDOCRINOLOGICA, 1978, 87 (03) :557-565

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