Characterization of ATM mutations in 41 nordic families with Ataxia Telangiectasia

Human Mutation

Volumn 16, Issue 3, 2000, Pages 232-246

  Laake, K ^a   Jansen, L ^a   Hahnemann, J M ^b   Brondum Nielsen K ^b   Lonnqvist T ^c   Kaariainen H ^d   Sankila, R ^e   Lahdesmaki A ^f   Hammarstrom L ^f   Yuen, J ^g   Tretli, S ^h   Heiberg, A ^a   Olsen, J H ⁱ   Tucker, M ^j   Kleinerman, R ^j   Borresen Dale A L ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c UNIVERSITY OF HELSINKI   (Finland)

^d Family Federation of Finland ^*  (Finland)

^e FINNISH CANCER REGISTRY   (Finland)

^f KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^g SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

^h CANCER REGISTRY OF NORWAY   (Norway)

ⁱ INSTITUTE OF CANCER EPIDEMIOLOGY   (Denmark)

^j NATIONAL CANCER INSTITUTE   (United States)

more..

Author keywords

Ataxia telangiectasia; ATM; DNA mutational analysis; Ethnology; Founder effect; Nordic population

Indexed keywords

ARTICLE; ATAXIA TELANGIECTASIA; CANCER SUSCEPTIBILITY; CEREBELLUM DEGENERATION; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILY STUDY; GENE MUTATION; HUMAN; IMMUNE DEFICIENCY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCANDINAVIA;

ALTERNATIVE SPLICING; ATAXIA TELANGIECTASIA; CHILD; DENMARK; DNA MUTATIONAL ANALYSIS; FEMALE; FINLAND; HETEROZYGOTE DETECTION; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MUTATION; NORWAY; SWEDEN;

EID: 0033864070     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200009)16:3<232::AID-HUMU6>3.0.CO;2-L     Document Type: Article

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