Condition: Xeroderma pigmentosum, group A


rs104894131 in XPA gene and Xeroderma pigmentosum, group A PMID 10447254 1999 A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

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.

PMID 8504220 1993 The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene.

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 1339397 1992 Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.

PMID 20199544 2010 Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.

PMID 20054342 2010 Among 7/8 XP-A patients, we found the previously reported nonsense homozygous XPA mutation (p.Arg228X).

PMID 1372102 1992 Three nonsense mutations responsible for group A xeroderma pigmentosum.

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

PMID 27982466 2017 Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.

PMID 16491090 2006 Recognition of helical kinks by xeroderma pigmentosum group A protein triggers DNA excision repair.

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

PMID 25566891 2015 Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.

PMID 15214909 2004 DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A.

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

PMID 7876263 1995 The general transcription-repair factor TFIIH is recruited to the excision repair complex by the XPA protein independent of the TFIIE transcription factor.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 16905156 2006 Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.

PMID 1702221 1990 Characterization of a splicing mutation in group A xeroderma pigmentosum.

PMID 23194742 2013 Ancient origin of a Japanese xeroderma pigmentosum founder mutation.

PMID 25256075 2015 Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.

PMID 9101292 1997 Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.

PMID 20574439 2010 XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms.

PMID 22081045 2012 Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.