Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features

Journal of Investigative Dermatology

Volumn 125, Issue 1, 2005, Pages 86-92

  Fujimoto, Mitsuo ^a   Leech, Suzanne N ^b   Theron, Therina ^c,d   Mori, Masato ^e   Fawcett, Heather ^c   Botta, Elena ^a   Nozaki, Yasuyuki ^e   Yamagata, Takanori ^e   Moriwaki, Shin Ichi ^f   Stefanini, Miria ^a   Momoi, Mariko Y ^e   Nakagawa, Hidemi ^a   Shuster, Sam ^g   Moss, Celia ^h   Lehmanni, Alan R ^c  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c UNIVERSITY OF SUSSEX   (United Kingdom)

^d UNIVERSITY OF CAPE TOWN   (South Africa)

^e CNR   (Italy)

^f HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g Norfolk University   (United Kingdom)

^h BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Cockayne syndrome; DNA repair; Mutation; TFIIH; Xeroderma pigmentosum

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; COCKAYNE SYNDROME; DISEASE SEVERITY; DNA REPAIR; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL; SKIN PIGMENTATION; ULTRAVIOLET IRRADIATION; XERODERMA PIGMENTOSUM;

EID: 22144478675     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2005.23745.x     Document Type: Article

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