New mutations in the ATM gene and clinical data of 25 at patients

Neurogenetics

Volumn 12, Issue 4, 2011, Pages 273-282

  Demuth, Ilja ^a   Dutrannoy, Véronique ^a   Marques Jr , Wilson ^b   Neitzel, Heidemarie ^a   Schindler, Detlev ^c   Dimova, Petja S ^d   Chrzanowska, Krystyna H ^e   Bojinova, Veneta ^d   Gregorek, Hanna ^e   Graul Neumann, Luitgard M ^a   Von Moers, Arpad ^f   Schulze, Ilka ^g   Nicke, Marion ^h   Bora, Elcin ⁱ   Cankaya, Tufan ⁱ   Oláh, Éva ^j   Kiss, Csongor ^j   Bessenyei, Beáta ^j   Szakszon, Katalin ^j   Gruber Sedlmayr, Ursula ^k   Kroisel, Peter Michael ^l   Sodia, Sigrun ^l   Goecke, Timm O ^m   Dörk, Thilo ^h   Digweed, Martin ^a   Sperling, Karl ^a   De Sá, Joaquim ⁿ   Lourenco, Charles Marques ^b   Varon, Raymonda ^a   more..

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^e CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^f DRK KLINIKEN BERLIN WESTEND   (Germany)

^g UNIVERSITY OF FREIBURG   (Germany)

^h HANNOVER MEDICAL SCHOOL   (Germany)

ⁱ DOKUZ EYLUL UNIVERSITY   (Turkey)

^j UNIVERSITY OF DEBRECEN   (Hungary)

^k UNIVERSITY OF GRAZ   (Austria)

^l MEDICAL UNIVERSITY OF GRAZ   (Austria)

^m HEINRICH HEINE UNIVERSITY   (Germany)

ⁿ CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

more..

Author keywords

Ataxia telangiectasia; ATM; Mutation screening

Indexed keywords

PHOSPHATIDYLINOSITOL 3 KINASE;

ADOLESCENT; ADULT; ARTICLE; ATAXIA TELANGIECTASIA; ATM GENE; CHILD; CLINICAL ARTICLE; DNA DAMAGE; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FAMILY; PROTEIN FUNCTION;

ADOLESCENT; ADULT; ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HAPLOTYPES; HUMANS; MALE; MUTATION; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RNA SPLICING; TUMOR SUPPRESSOR PROTEINS;

ATAXIA TELANGIECTASIA;

EID: 84855276307     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-011-0299-0     Document Type: Article

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