Mutations in the XPD gene leading to xeroderma pigmentosum symptoms

Human Mutation

Volumn 9, Issue 4, 1997, Pages 322-331

  Kobayashi, Takehiro ^a   Kuraoka, Isao ^a   Saijo, Masafumi ^a   Nakatsu, Yoshimichi ^a   Tanaka, Akemi ^b   Someda, Yukiko ^b   Fukuro, Shuhei ^c   Tanaka, Kiyoji ^a  

^a OSAKA UNIVERSITY   (Japan)

^b OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

helicase domain; mutations; Xeroderma pigmentosum; XPD gene

Indexed keywords

ARTICLE; CASE REPORT; CHILD; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC COMPLEMENTATION; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; XERODERMA PIGMENTOSUM;

CELLS, CULTURED; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; FIBROBLASTS; GENE EXPRESSION REGULATION; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT; JAPAN; MALE; MICROINJECTIONS; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEINS; RNA, MESSENGER; SEQUENCE DELETION; SKIN; TRANSCRIPTION FACTORS; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 0030941231     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:4<322::AID-HUMU4>3.0.CO;2-7     Document Type: Article

References (11)

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