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Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.

Autosomal recessive congenital ichthyosis (ARCI) is a rare, heterogenous keratinization disorder of the skin, classically divided into two clinical subtypes, lamellar ichthyosis (LI) and nonbullous congenital ichthyosiformis erythroderma (CIE). Recently, strong evidence for the involvement of the tr...

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Bibliografske podrobnosti
Main Authors: Laiho, E, Ignatius, J, Mikkola, H, Yee, V C, Teller, D C, Niemi, K M, Saarialho-Kere, U, Kere, J, Palotie, A
Format: Artigo
Jezik:Inglês
Izdano: 1997
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715945/
https://ncbi.nlm.nih.gov/pubmed/9326318
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