Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family

BACKGROUND: Xeroderma pigmentosum (XP) is a rare genetic disorder, which is characterized by hyper‐sensitivity to solar ultraviolet (UV) radiation. Clinical consequences of sun exposure are skin lesions and an increased risk of developing skin cancer. Genetic studies have identified eight genes asso...

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Detalles Bibliográficos
Autores principales: Ali, Muhammad Z., Blatterer, Jasmin, Khan, Muzammil A., Schaflinger, Erich, Petek, Erwin, Ahmad, Safeer, Khan, Ejazullah, Windpassinger, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005610/
https://www.ncbi.nlm.nih.gov/pubmed/31923348
http://dx.doi.org/10.1002/mgg3.1060

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