Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia

American Journal of Human Genetics

Volumn 92, Issue 5, 2013, Pages 807-819

  Kashiyama, Kazuya ^a   Nakazawa, Yuka ^a   Pilz, Daniela T ^b   Guo, Chaowan ^a   Shimada, Mayuko ^a   Sasaki, Kensaku ^a   Fawcett, Heather ^c   Wing, Jonathan F ^c   Lewin, Susan O ^d   Carr, Lucinda ^e   Li, Tao Sheng ^a   Yoshiura, Koh Ichiro ^a   Utani, Atsushi ^a   Hirano, Akiyoshi ^a   Yamashita, Shunichi ^a,f   Greenblatt, Danielle ^g   Nardo, Tiziana ^h   Stefanini, Miria ^h   McGibbon, David ^g   Sarkany, Robert ^g   Fassihi, Hiva ^g   Takahashi, Yoshito ⁱ   Nagayama, Yuji ^a   Mitsutake, Norisato ^a   Lehmann, Alan R ^c   Ogi, Tomoo ^a   more..

^a NAGASAKI UNIVERSITY   (Japan)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c UNIVERSITY OF SUSSEX   (United Kingdom)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^g ST THOMAS HOSPITAL   (United Kingdom)

^h CNR   (Italy)

ⁱ KANEBO LTD   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 1; PROTEIN; UNCLASSIFIED DRUG; XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP F PROTEIN;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CAUSE OF DEATH; CHILD; CLINICAL FEATURE; COCKAYNE SYNDROME; CONTROLLED STUDY; ERCC1 GENE; ERCC2 GENE; ERCC3 GENE; ERCC4 GENE; ERCC5 GENE; ERCC6 GENE; ERCC8 GENE; EXCISION REPAIR; FANCONI ANEMIA; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; XERODERMA PIGMENTOSUM;

AMINO ACID SEQUENCE; BASE SEQUENCE; COCKAYNE SYNDROME; DNA PRIMERS; DNA-BINDING PROTEINS; ENDONUCLEASES; FANCONI ANEMIA; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; SEQUENCE ANALYSIS, DNA; XERODERMA PIGMENTOSUM;

EID: 84877580404     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.04.007     Document Type: Article

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