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

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

Abstract 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 ge...

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Bibliographic Details
Main Authors: Muhammad Z. Ali, Jasmin Blatterer, Muzammil A. Khan, Erich Schaflinger, Erwin Petek, Safeer Ahmad, Ejazullah Khan, Christian Windpassinger
Format: Article
Language:English
Published: Wiley 2020-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
frameshift mutation
homozygosity mapping
Pakistani family
xeroderma pigmentosum
XPC
Online Access:https://doi.org/10.1002/mgg3.1060

Internet

https://doi.org/10.1002/mgg3.1060

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