Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family
ConclusionThe study expands the knowledge of the mutational spectrum ofXPC and is valuable for genetic counseling of affected individuals and their families.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Muhammad Z. Ali,
Jasmin Blatterer,
Muzammil A. Khan,
Erich Schaflinger,
Erwin Petek,
Safeer Ahmad,
Ejazullah Khan,
Christian Windpassinger Tags: ORIGINAL ARTICLE Source Type: research
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