Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2008.08439.x/fullpdf
Reference10 articles.
1. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis
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3. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
4. Mammalian ABC Transporters in Health and Disease
5. Characterization of the ABCA Transporter Subfamily: Identification of Prokaryotic and Eukaryotic Members, Phylogeny and Topology
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