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Article

Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with anovel mutation of CYP21 gene (Q481P).

Journal of endocrinological investigation - 1 Dec 2005

Di Pasquale G, Wasniewska M, Caruso M, Salzano G, Coco M, Lombardo F, De Luca F

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Share to Adrenal Hyperplasia, Congenital
Share to Heterozygote
Share to Infant, Newborn
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Sodium Chloride

Share to Steroid 21-Hydroxylase

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Identifiers

PMID: 16483186
DOI: 10.1007/BF03345346

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Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with anovel mutation of CYP21 gene (Q481P).PMID 16483186Read ↗

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[Clinical and genetic characteristics of 165 children with salt-wasting 21-hydroxylase deficiency in Henan Province].Semantic proximity Read ↗

A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia.Semantic proximity Read ↗

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A case of patient affected by hirsutism carrying the P482S CYP21 gene mutation associated with loss of heterozygosity (LOH).Semantic proximity Read ↗

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