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Particular interest of HLA typing for genetic counselling in families with congenital adrenal hyperplasia (21-OH deficiency).

作者信息

Couillin P, Boué J, Bétuel H, Hors J, Gebuhrer L, Boué A

出版信息

Haematologia (Budap). 1987;20(1):25-30.

PMID:3496258
Abstract

The close genetic linkage between 21 hydroxylase deficiency and HLA loci considerably enlarges the possibilities of genetic counselling. Two 21-OH deficient complex families are reported, illustrating several aspects of this genetic counselling: detection of carriers, determination of the actual risk to related couples, suspicion of 21-OH deficiency by an HLA specificity association, and prenatal diagnosis.

摘要

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