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Functional Analysis of Two Recurrent Amino Acid Substitutions in the<i>CYP21</i>Gene from Italian Patients with Congenital Adrenal Hyperplasia

1 May 2004

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is most commonly due to 21-hydroxylase deficiency and presents a wide spectrum of clinical manifestations from a severe classical form to a milder late-onset form with a variable severity of hyperandrogenic symptoms. A limited number of mutations account for the majority of the mutated alleles, but additional rare mutations are responsible for the symptoms in some patients. By...

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Identifiers

PMID: 15126570
DOI: 10.1210/jc.2003-031630

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Functional Analysis of Two Recurrent Amino Acid Substitutions in the<i>CYP21</i>Gene from Italian Patients with Congenital Adrenal HyperplasiaPMID 15126570Read ↗

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