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Article

A Model for ATM Heterozygote Identification in a Large Population: Four Founder-Effect ATM Mutations Identify Most of Costa Rican Patients with Ataxia Telangiectasia

1 May 1998

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 9682216
DOI: 10.1006/mgme.1998.2693

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Related research

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A Model for ATM Heterozygote Identification in a Large Population: Four Founder-Effect ATM Mutations Identify Most of Costa Rican Patients with Ataxia TelangiectasiaPMID 9682216Read ↗

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.Semantic proximity Read ↗

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Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.Semantic proximity Read ↗

ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.Semantic proximity Read ↗

ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignanciesSemantic proximity Read ↗

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.Semantic proximity Read ↗

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer.Semantic proximity Read ↗

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.Semantic proximity Read ↗

Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Semantic proximity Read ↗

The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.Semantic proximity Read ↗

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