Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family-Reference-Cited by-同舟云学术

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

Published:2020-01-10 Issue:2 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Ali Muhammad Z.¹,Blatterer Jasmin²,Khan Muzammil A.¹^ORCID,Schaflinger Erich²,Petek Erwin²,Ahmad Safeer¹,Khan Ejazullah¹,Windpassinger Christian²

Affiliation:

1. Gomal Centre of Biochemistry and Biotechnology Gomal University Dera Ismail Khan Khyber Pakhtunkhwa Pakistan

2. Diagnostic & Research Institute of Human Genetics Medical University of Graz Graz Austria

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1060

Reference30 articles.

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3. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels;Chavanne F.;Cancer Research,2000

4. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

5. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene

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