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

Human Mutation

Volumn 12, Issue 2, 1998, Pages 103-113

  States, J C ^a,b   McDuffie, E R ^a   Myrand, S P ^a,b   McDowell, M ^c   Cleaver, J E ^c  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WAYNE STATE UNIVERSITY   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

DNA repair; Mutation slicing; Single strand conformation polymorphism; Xeroderma pigmentosum; XPA

Indexed keywords

ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL FEATURE; DNA DAMAGE; EXON; GENE FREQUENCY; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; PEDIGREE; PIGMENTATION; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; SQUAMOUS CELL CARCINOMA; XERODERMA PIGMENTOSUM;

ALTERNATIVE SPLICING; CELL LINE; DNA DAMAGE; DNA-BINDING PROTEINS; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP A PROTEIN;

EID: 0031802583     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6     Document Type: Article

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