Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: Confirmation of genotype-phenotype correlation

American Journal of Medical Genetics

Volumn 110, Issue 3, 2002, Pages 248-252

  Kobayashi, Takehiro ^a   Uchiyama, Makoto ^a   Fukuro, Shuhei ^b   Tanaka, Kiyoji ^c  

^a NIIGATA UNIVERSITY   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY   (Japan)

Author keywords

Genotype phenotype correlation; Mutations; Xeroderma pigmentosum; XPD gene

Indexed keywords

ADULT; AGED; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CANCER SUSCEPTIBILITY; CELL STRAIN; CHILD; CLINICAL ARTICLE; COCKAYNE SYNDROME; CORRELATION ANALYSIS; EXCISION REPAIR; FEMALE; GENE ISOLATION; GENE LOCATION; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; PHENOTYPE; PHOTOSENSITIVITY DISORDER; PRIORITY JOURNAL; PROTEIN EXPRESSION; SUN; TRANSCRIPTION REGULATION; TRICHOTHIODYSTROPHY; XERODERMA PIGMENTOSUM; XPD GENE;

ADULT; AGED; BASE SEQUENCE; CELLS, CULTURED; CHILD; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROTEINS; SEQUENCE DELETION; TRANSCRIPTION FACTORS; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 0036644244     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10465     Document Type: Article

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