Cargando...

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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Farasat, S, Wei, M-H, Herman, M, Liewehr, D J, Steinberg, S M, Bale, S J, Fleckman, P, Toro, J R
Formato: Artigo
Lenguaje:Inglês
Publicado: 2008
Materias:
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!