ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects

Human Mutation

Volumn 21, Issue 1, 2003, Pages 80-85

  Campbell, Catarina ^b   Mitui, Midori ^b   Eng, Laura ^b   Coutinho, Gabriela ^a   Thorstenson, Yvonne ^b   Gatti, Richard A ^b  

^a FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^b NONE

Author keywords

A T; Age of mutations; Ataxia telangiectasia; ATM; Ethnic; Founder effect; Haplotypes; SNP; STR

Indexed keywords

ATM PROTEIN;

ARTICLE; ATAXIA TELANGIECTASIA; CONTROLLED STUDY; ETHNOLOGY; FOUNDER EFFECT; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HAPLOTYPE; HUMAN; HUMAN CELL; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TANDEM REPEAT;

ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FOUNDER EFFECT; HAPLOTYPES; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-SERINE-THREONINE KINASES; TANDEM REPEAT SEQUENCES; TUMOR SUPPRESSOR PROTEINS;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0037224510     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10156     Document Type: Article

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