Improved diagnostic testing for ataxia–telangiectasia by immunoblotting of nuclear lysates for ATM protein expression
- 1 December 2003
- journal article
- research article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 80 (4) , 437-443
- https://doi.org/10.1016/j.ymgme.2003.09.008
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rateHuman Mutation, 2003
- Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancerHuman Mutation, 2003
- Early diagnosis of ataxia-telangiectasia using radiosensitivity testingThe Journal of Pediatrics, 2002
- Global Analysis of ATM Polymorphism Reveals Significant Functional ConstraintAmerican Journal of Human Genetics, 2001
- The Inherited Basis of Human RadiosensitivityActa Oncologica, 2001
- Ataxia-Telangiectasia: Phenotype/Genotype Studies of ATM Protein Expression, Mutations, and RadiosensitivityMolecular Genetics and Metabolism, 2000
- New mutations, polymorphisms, and rare variants in theATM gene detected by a novel SSCP strategyHuman Mutation, 1999
- A Model for ATM Heterozygote Identification in a Large Population: Four Founder-Effect ATM Mutations Identify Most of Costa Rican Patients with Ataxia TelangiectasiaMolecular Genetics and Metabolism, 1998
- Genotype-Phenotype Relationships in Ataxia-Telangiectasia and VariantsAmerican Journal of Human Genetics, 1998
- Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic PopulationsAmerican Journal of Human Genetics, 1998