Related references
Note: Only part of the references are listed.Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family
Muhammad Z. Ali et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect
Ambreen Ijaz et al.
CONGENITAL ANOMALIES (2019)
XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect
Ambreen Ijaz et al.
CONGENITAL ANOMALIES (2019)
Clinical and genetic characteristics of xeroderma pigmentosum in Nepal
P. Espi et al.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY (2018)
Xeroderma pigmentosum group C sensor: unprecedented recognition strategy and tight spatiotemporal regulation
Marjo-Riitta Puumalainen et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2016)
Ensembl 2016
Andrew Yates et al.
NUCLEIC ACIDS RESEARCH (2016)
DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease
Aurelie Dupuy et al.
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2015)
A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families
A. Ullah et al.
CLINICAL AND EXPERIMENTAL DERMATOLOGY (2015)
Xeroderma pigmentosum complementation group C protein (XPC) serves as a general sensor of damaged DNA
Steven M. Shell et al.
DNA REPAIR (2013)
Nucleotide Excision Repair in Eukaryotes
Orlando D. Schaerer
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)
A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients
Francois Cartault et al.
DNA REPAIR (2011)
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
Porcia T. Bradford et al.
JOURNAL OF MEDICAL GENETICS (2011)
Xeroderma pigmentosum
Alan R. Lehmann et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Strand- and site-specific DNA lesion demarcation by the xeroderma pigmentosum group D helicase
Nadine Mathieu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Two-Step Recognition of DNA Damage for Mammalian Nucleotide Excision Repair: Directional Binding of the XPC Complex and DNA Strand Scanning
Kaoru Sugasawa et al.
MOLECULAR CELL (2009)
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Wim J. Kleijer et al.
DNA REPAIR (2008)
The genetics of the hereditary xeroderma pigmentosum syndrome
A Stary et al.
BIOCHIMIE (2002)
Share Paper
