Affiliation:
1. The Second Affiliated Hospital of Nanchang University Nanchang China
2. Taiyuan Central Hospital of Shanxi Medical University Taiyuan China
Abstract
Abstract
We report a Chinese consanguineous family with a variant type of xeroderma pigmentosum (XPV), and identified one novel mutation in the patient. Our study expands the mutational spectrum of XPV.
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Publisher
Oxford University Press (OUP)