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Article

Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

Disease markers - 1 Jan 2004

Shawky R M, Sayed N S, Elhawary N A

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. It is clinically divided into 2 subtypes, lamellar ichthyosis (LI) and congenital ichthyosiformis erythroderma (CIE). We investigated forty-three ARCI Egyptian individuals in 16 severe LI, and 10 CIE families. We identified 5 alleles in two Egyptian families as having intron-5/exon-6 splice acceptor...

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Source

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Identifiers

PMID: 15665393
DOI: 10.1155/2004/965968
PMCID: PMC3839340

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Source receipt: pubmed, retrieved 7 Sept 2026.

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