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E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Kirby-Keyser L., Porter C.C., Donohoue P.A.

Hum. Mutat. 9:181-182(1997) [PubMed] [Europe PMC]