UNTERSUCHUNGEN ZUR MOLEKULAREN BIOLOGIE DES ADRENOGENITALEN SYNDROMS. NEUE MOGLICHKEITEN DES HETERO-ZYGOTEN-SCREENING

Translated title of the contribution: Molecular biology of the adrenogenital syndrome. New possibilities of heterozygote screening

B. O. Bohm, C. Rosak, T. L J Bohm, P. C. White, K. Schöffling

Research output: Contribution to journalArticle

Abstract

The adrenogenital syndrome is one of the most frequent metabolic diseases. This disorder of adrenal biosynthesis can now be classified unequivocally on the basis of molecular biological techniques. In its classical form, this disease is characterized by loss of the gene region which codes for adrenal 21-hydroxylase. The techniques of gene analysis enable unequivocal identification of carriers of heterozygotic and homozygotic features and hence affords the basis for a rational concept for therapy of this disease.

Translated title of the contributionMolecular biology of the adrenogenital syndrome. New possibilities of heterozygote screening
Original languageGerman
Pages (from-to)87-89
Number of pages3
JournalDeutsche Medizinische Wochenschrift
Volume112
Issue number3
StatePublished - Feb 27 1987

ASJC Scopus subject areas

  • Medicine(all)

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