Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India

We report a large, non-consanguineous family comprising five generations of individuals residing in Gujarat, India affected with localized Epidermolysis Bullosa Simplex (EBS) Koebner type. We analyzed 14 individuals including 9 affected individuals from this family. Exome sequencing in two cases sug...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Vellarikkal, Shamsudheen K, Patowary, Ashok, Singh, Meghna, Kumari, Renu, Faruq, Mohammed, Master, Dilip C, Sivasubbu, Sridhar, Scaria, Vinod
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785511/
https://ncbi.nlm.nih.gov/pubmed/27081501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.7
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