Ataxia-telangiectasia in the Japanese population: Identification of R1917X, W2491R, R2909G, IVS33+2T→A, and 7883del5, the latter two being relatively common mutations

Human Mutation

Volumn 12, Issue 5, 1998, Pages 338-343

  Fukao, Toshiyuki ^a   Song, Xiang Qian ^a   Yoshida, Toko ^a   Tashita, Hideaki ^a   Kaneko, Hideo ^a   Teramoto, Takahide ^a   Inoue, Ryosuke ^a   Katamura, Kenji ^b   Mayumi, Mitsufumi ^c   Hiratani, Michio ^d   Taniguchi, Noboru ^e   Arai, Junichi ^f   Wakiguchi, Hiroshi ^f   Bar Shira, Anat ^g   Shiloh, Yosef ^g   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

^b KYOTO UNIVERSITY   (Japan)

^c UNIVERSITY OF FUKUI   (Japan)

^d Fukuiken Shovni Ryoiku Center   (Japan)

^e KANAZAWA UNIVERSITY   (Japan)

^f KOCHI MEDICAL SCHOOL   (Japan)

^g TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; ATAXIA TELANGIECTASIA; CLINICAL ARTICLE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ATAXIA TELANGIECTASIA; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; JAPAN; MALE; MUTATION;

EID: 7844239778     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:5<338::AID-HUMU7>3.0.CO;2-9     Document Type: Article

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