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Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary disorder of cornification. Mutations in the transglutaminase-1 (TGM1) gene, which encodes for the epidermal enzyme transglutaminase-1 (TGase-1), are one of the causes of ARCI. METHODS: The TGM1 mutation spectrum was ch...

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Autors principals: Farasat, S, Wei, M-H, Herman, M, Liewehr, D J, Steinberg, S M, Bale, S J, Fleckman, P, Toro, J R
Format: Artigo
Idioma:Inglês
Publicat: 2008
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3044481/
https://ncbi.nlm.nih.gov/pubmed/18948357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.060905
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