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Transglutaminase-1 Mutations in Omani Families with Lamellar Ichthyosis

OBJECTIVE: To determine the molecular basis of familial ichthyosis in three Omani families. SUBJECTS AND METHODS: Nine patients from three consanguineous families, A, B, and C, were born with typical features of lamellar ichthyosis subtype including collodion membrane and maintained ectropion, and e...

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Detalles Bibliográficos
Autores principales: Al-Naamani, Aisha, Al-Waily, Ahmed, Al-Kindi, Mohammed, Al-Awadi, Maha, Al-Yahyaee, Said Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586776/
https://www.ncbi.nlm.nih.gov/pubmed/23689228
http://dx.doi.org/10.1159/000349914