NIPAL4/Ichthyin Is Expressed in the Granular Layer of Human Epidermis and Mutated in Two Pakistani Families with Autosomal Recessive Ichthyosis

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) can be divided into 3 types including lamellar ichthyosis (OMIM 242304), nonbullous congenital ichthyosiform erythroderma (OMIM 242100) and harlequin ichthyosis (OMIM 242500). The last type is uncommon since newborns with harlequin ichthyo...

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Détails bibliographiques
Auteurs principaux: Wajid, Muhammad, Kurban, Mazen, Shimomura, Yutaka, Christiano, Angela M.
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2010
Sujets:
Original Paper
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2855276/
https://ncbi.nlm.nih.gov/pubmed/20016120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000265757
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