In silico characterization of a novel pathogenic deletion mutation identified in XPA gene in a Pakistani family with severe xeroderma pigmentosum

BACKGROUND: Xeroderma Pigmentosum (XP) is a rare skin disorder characterized by skin hypersensitivity to sunlight and abnormal pigmentation. The aim of this study was to investigate the genetic cause of a severe XP phenotype in a consanguineous Pakistani family and in silico characterization of any...

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Detalles Bibliográficos
Autores principales: Nasir, Muhammad, Ahmad, Nafees, Sieber, Christian MK, Latif, Amir, Malik, Salman Akbar, Hameed, Abdul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856591/
https://www.ncbi.nlm.nih.gov/pubmed/24063568
http://dx.doi.org/10.1186/1423-0127-20-70

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856591/
https://www.ncbi.nlm.nih.gov/pubmed/24063568
http://dx.doi.org/10.1186/1423-0127-20-70

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