Identification of Non-Amplifying CYP21 Genes When Using PCR-Based Diagnosis of 21-Hydroxylase Deficiency in Congenital Adrenal Hyperplasia (CAH) Affected Pedigrees

By Day Darren J.   Speiser Phyllis W.   Schulze Egbert   Bettendorf M.   Fitness Jodene   Barany Francis   White Perrin C.  

Human Molecular Genetics, Vol. 5, Iss. 12, 1996-12 ,pp. : 2039-2048

Oxford University Press

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Low Frequency of CYP21B Deletions in Brazilian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

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Mutation Analysis in Patients with Congenital Adrenal Hyperplasia in the Spanish Population: Identification of Putative Novel Steroid 21-Hydroxylase Deficiency Alleles Associated with the Classic Form of the Disease

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CYP11B1 Mutations Causing Non-Classic Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

By Joehrer Karin   Geley Stephan   Strasser-Wozak Elisabeth M.C.   Azziz Ricardo   Wollmann Hartmut A.   Schmitt Klaus   Kofler Reinhard   White Perrin C.  

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High Variability of CYP21 Gene Rearrangements in Spanish Patients with Classic Form of Congenital Adrenal Hyperplasia

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