Ataxia-telangiectasia without immunodeficiency: Novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain

American Journal of Medical Genetics

Volumn 75, Issue 2, 1998, Pages 141-144

  Toyoshima, Mitsuo ^a   Hara, Toshiro ^a   Zhang, Haidi ^a   Yamamoto, Toshiyuki ^a   Akaboshi, Shinjiro ^a   Nanba, Eiji ^a   Ohno, Kousaku ^a   Hori, Naohiro ^a   Sato, Kenzo ^a   Takeshita, Kenzo ^a  

^a TOTTORI UNIVERSITY   (Japan)

Author keywords

AT gene; Ataxia telangiectasia; Compound heterozygote; Immunodeficiency

Indexed keywords

PHOSPHATIDYLINOSITOL KINASE;

ADULT; ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; HUMAN; IMMUNE DEFICIENCY; MALE; MISSENSE MUTATION; PHOTOSENSITIVITY; POINT MUTATION; PRIORITY JOURNAL;

1-PHOSPHATIDYLINOSITOL 3-KINASE; ADULT; ANTIBIOTICS, ANTINEOPLASTIC; ATAXIA TELANGIECTASIA; BLEOMYCIN; FIBROBLASTS; HUMANS; MALE; POINT MUTATION; RIBONUCLEASES;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0031963040     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980113)75:2<141::AID-AJMG4>3.0.CO;2-W     Document Type: Article

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