Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: Identification of four novel mutations

European Journal of Human Genetics

Volumn 7, Issue 3, 1999, Pages 310-320

  Izatt, Louise ^a   Vessey, Carina ^b   Hodgson, Shirley V ^a   Solomon, Ellen ^a  

^a GUY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Ataxia telangiectasia; ATM; Fluorescent chemical cleavage of mismatch; Mutation detection; Protein expression

Indexed keywords

RESTRICTION ENDONUCLEASE;

ADOLESCENT; ADULT; ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; BASE MISPAIRING; CANCER SUSCEPTIBILITY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FLUORESCENCE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; ALLELES; ALTERNATIVE SPLICING; ATAXIA TELANGIECTASIA; BLOTTING, WESTERN; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; FEMALE; FLUORESCENT DYES; FRAMESHIFT MUTATION; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PROTEIN-SERINE-THREONINE KINASES; PROTEINS; REAGENT KITS, DIAGNOSTIC; TIME FACTORS; TUMOR SUPPRESSOR PROTEINS;

EID: 0032929161     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200288     Document Type: Article

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