Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia

European Journal of Human Genetics

Volumn 4, Issue 6, 1996, Pages 352-355

  Vořechovský, Igor ^a,b   Luo, Liping ^a   Prudente, Sabrina ^c   Chessa, Luciana ^c   Russo, Giandomenico ^d   Kanariou, Maria ^e   James, Michael ^f   Negrini, Massimo ^g   Webster, A David B ^b   Haminarström, Lennart ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b ROYAL FREE HOSPITAL   (United Kingdom)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d Raggio Italgene   (Italy)

^e AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^f UNIVERSITY OF OXFORD   (United Kingdom)

^g THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Ataxia telangiectasia; ATM; Chromosome 11; Mutation

Indexed keywords

ARTICLE; ATAXIA TELANGIECTASIA; CLINICAL ARTICLE; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

EID: 0030453703     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000472231     Document Type: Article

References (2)

1. Shiloh Y: Ataxia-telangiectasia: Closer to unraveling the mystery. Eur J Hum Genet 1995;3:116-138.
2. Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NGJ, Lange K, Lathrop GM, Leppert M, Nakamura Y, O'Connel P, Paterson M, Salser W, Sanal O, Silver J, Sparkes RS, Susi E, Weeks DE, Wei S, White R, Yoder F: Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 1988;336:577-580.