ATAXIA TALANGIECTASIA: DEVELOPMENT OF MOLECULAR GENETICS ASSAYS FOR THE IDENTIFICATION OF HOMOZYGOUS AND HETEROZYGOUS CARRIERS OF THE MUTATED ATM GENE

Pubblicazioni Scientifiche

• 1996 CANCER RESEARCH

  The ATM gene and susceptibility to breast cancer: Analysis of 38 breast tumors reveals no evidence for mutation

• 1996 HUMAN MOLECULAR GENETICS

  Predominance of null mutations in ataxia-telangiectasia

• 1996 EUROPEAN JOURNAL OF HUMAN GENETICS

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

• 1997 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AME

  The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage

• 1998 HUMAN MUTATION

  Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel