Condition: Xeroderma Pigmentosum


rs121434570 in BIVM-ERCC5;ERCC5 gene and Xeroderma Pigmentosum PMID 7951246 1994 Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

rs776705174 in ERCC2 gene and Xeroderma Pigmentosum PMID 7920640 1994 Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.

rs754673606 in LOC107986063;XPC gene and Xeroderma Pigmentosum PMID 21482201 2011 A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.

PMID 26884178 2016 Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

rs104894132 in XPA gene and Xeroderma Pigmentosum PMID 29208038 2017 Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.

PMID 20534089 2010 Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.

PMID 19917958 2009 Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

PMID 26302748 2016 A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities.

PMID 9671271 1998 Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.

PMID 27607234 2017 Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.

PMID 1372103 1992 Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.

rs374117852 in XPC gene and Xeroderma Pigmentosum PMID 17079196 2007 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.

PMID 24218596 2013 Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

PMID 16081512 2006 Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.

PMID 11121128 2000 Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.

PMID 27413738 2016 Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.