Article
Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
Hormone research - 1 Jan 2001
Loke K Y, Lee Y S, Lee W W, Poh L K
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia arising from 21-hydroxylase deficiency is associated with mutations in the CYP21 gene on chromosome 6p. This is the first report on the mutational spectrum of the CYP21 gene in Singapore. METHODS: To catalogue the mutations, ten exons of the CYP21 gene from 28 Singaporean patients were analyzed by PCR amplification and direct sequencing. RESULTS: Common mutations in...
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