Untersuchungen zur molekularen Biologie des adrenogenitalen Syndroms: Neue Möglichkeiten des Hetero-Zygoten-Screening

Autor:	P. C. White, B. O. Böhm, C. Rosak, Schöffling K, T. L. J. Böhm
Rok vydání:	2008
Předmět:	Genetics Nucleic acid thermodynamics Dna genetics Adrenogenital syndrome Identification (biology) General Medicine Disease Biology Gene
Zdroj:	DMW - Deutsche Medizinische Wochenschrift. 112:87-89
ISSN:	1439-4413 0012-0472
DOI:	10.1055/s-2008-1068009
Popis:	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.
Databáze:	OpenAIRE
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