Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause fanconi anemia

American Journal of Human Genetics

Volumn 96, Issue 6, 2015, Pages 1001-1007

  Hira, Asuka ^a   Yoshida, Kenichi ^a   Sato, Koichi ^b   Okuno, Yusuke ^c   Shiraishi, Yuichi ^d   Chiba, Kenichi ^d   Tanaka, Hiroko ^d   Miyano, Satoru ^d   Shimamoto, Akira ^e   Tahara, Hidetoshi ^e   Ito, Etsuro ^f   Kojima, Seiji ^c   Kurumizaka, Hitoshi ^b   Ogawa, Seishi ^a   Takata, Minoru ^a   Yabe, Hiromasa ^g   Yabe, Miharu ^g  

^a KYOTO UNIVERSITY   (Japan)

^b WASEDA UNIVERSITY   (Japan)

^c NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

^e HIROSHIMA UNIVERSITY   (Japan)

^f HIROSAKI UNIVERSITY   (Japan)

^g TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

UBIQUITIN CONJUGATING ENZYME E2; UBIQUITIN CONJUGATING ENZYME E2T; UNCLASSIFIED DRUG; FANCL PROTEIN, HUMAN; FANCONI ANEMIA GROUP L PROTEIN; UBE2T PROTEIN, HUMAN; UBIQUITIN CONJUGATING ENZYME;

ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BONE MARROW; CANCER SUSCEPTIBILITY; CHILD; CHROMOSOME BREAKAGE; CONTROLLED STUDY; EXOME; FANCONI ANEMIA; FEMALE; FIBROBLAST; GENE LOCUS; GENE MUTATION; HUMAN; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; CASE REPORT; CHEMICAL STRUCTURE; CHEMISTRY; DNA SEQUENCE; GENE STRUCTURE; GENETICS; GENOTYPE; JAPAN; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; UBIQUITINATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP L PROTEIN; FEMALE; GENE COMPONENTS; GENOTYPE; HUMANS; JAPAN; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; UBIQUITIN-CONJUGATING ENZYMES; UBIQUITINATION;

EID: 84938667462     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.04.022     Document Type: Article

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