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

Autor:	Shamsudheen Karuthedath Vellarikkal, Mohammed Faruq, Dilip C. Master, Sridhar Sivasubbu, Renu Kumari, Vinod Scaria, Meghna Singh, Ashok Patowary
Rok vydání:	2014
Předmět:	Genetics Biology medicine.disease Biochemistry Epidermolysis bullosa simplex Mutation (genetic algorithm) Autosomal dominant epidermolysis bullosa simplex medicine Data Report Molecular Biology Novel mutation Gene Exome sequencing
Zdroj:	Human Genome Variation
ISSN:	2054-345X
Popis:	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 suggested a novel non-synonymous variation, p.L325H, in the KRT5 gene. The present analysis also reports the first causative mutation of EBS Koebner type from India.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96cfe344b19172f63b751b01f14e1c93 https://pubmed.ncbi.nlm.nih.gov/27081501 Zobrazit plný text záznamu