A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: A case report and review of the genetic variants reported in XPC-Reference-Cited by-同舟云学术

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: A case report and review of the genetic variants reported in XPC

Published:2007-01 Issue:1 Volume:6 Page:100-114
ISSN:1568-7864
Container-title:DNA Repair
language:en
Short-container-title:DNA Repair

Author:

Rivera-Begeman Amanda,McDaniel Lisa D.,Schultz Roger A.,Friedberg Errol C.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference39 articles.

1. Xeroderma pigmentosum and Cockayne Syndrome;Cleaver,1995

2. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases;Kraemer;Arch. Dermatol.,1987

3. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy;Lehmann;Biochimie,2003

4. DNA Repair and Mutagenesis;Friedberg,1995

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