Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.
Academic Article
Publication Date:
2007
Iris type:
14.a.1 Articolo su rivista
Keywords:
congenital adrenal hyperplasia, new mutation
List of contributors:
DI PASQUALE, Laura; S., Indovina; Wasniewska, Malgorzata Gabriela; Mirabelli, S.; P., Porcelli; I., Rulli; Salzano, Giuseppina; DE LUCA, Filippo
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