Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.

Autor: Nawal W; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan., Ullah A; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.; Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, University of Copenhagen Faculty of Health and Medical Sciences, Kobenhavn, Denmark.; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan., Ullah U; Department of Biochemistry, Hazara University, Mansehra, Pakistan., Farrakh K; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan., Ahmad F; Department of Chemistry, Women University Swabi Swabi, Pakistan., Khan H; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan., Ahmad GS; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan., Khan B; Department of Biochemistry, Abdul Wali Khan University, Mardan, Pakistan., Ansar M; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan., Kalsoom UE; Department of Biochemistry, Hazara University, Mansehra, Pakistan., Ahmad W; Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.

Publikováno v: Klinische Padiatrie [Klin Padiatr] 2022 May; Vol. 234 (3), pp. 123-129. Date of Electronic Publication: 2021 Sep 20.