Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type

Journal of Dermatological Science

Volumn 52, Issue 2, 2008, Pages 144-148

  Masaki, Taro ^a   Ono, Ryusuke ^a   Tanioka, Miki ^b   Funasaka, Yoko ^a   Nagano, Tohru ^a   Moriwaki, Shinichi ^c   Nishigori, Chikako ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KYOTO UNIVERSITY   (Japan)

^c OSAKA MEDICAL COLLEGE   (Japan)

Author keywords

Hot spots; Immunoprecipitation; Minimum erythema dose; Xeroderma pigmentosum variant type

Indexed keywords

AMINO ACID; DNA DIRECTED DNA POLYMERASE ETA;

ADULT; AGED; ALLELE; CLINICAL ARTICLE; CLINICAL FEATURE; CLONING; CONTROLLED STUDY; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFORMED CONSENT; JAPANESE; LETTER; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; XERODERMA PIGMENTOSUM;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; DNA-DIRECTED DNA POLYMERASE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; JAPAN; MIDDLE AGED; MUTATION; XERODERMA PIGMENTOSUM;

EID: 51249091197     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2008.07.001     Document Type: Letter

References (10)

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