A novel frameshift mutation (141delT) in
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Nils Krone; Andreas Braun; Adelbert Anton Roscher; Hans Peter Schwarz
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Article
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1999
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John Wiley and Sons
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English
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Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p