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Article

Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.

Journal of endocrinological investigation - 1 Oct 2007

Di Pasquale L, Indovina S, Wasniewska M, Mirabelli S, Porcelli P, Rulli I, Salzano G, De Luca F

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Share to Adrenal Hyperplasia, Congenital
Share to Codon, Nonsense
Share to Heterozygote
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Steroid 21-Hydroxylase

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Identifiers

PMID: 17993777
DOI: 10.1007/BF03350823

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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