Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20

Annals of Human Genetics

Volumn 72, Issue 1, 2008, Pages 10-18

  Cavalieri, Simona ^a   Funaro, Ada ^a   Pappi, Patrizia ^a   Migone, Nicola ^a   Gatti, Richard A ^b   Brusco, Alfredo ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Ataxia telangiectasia; ATM; ATM duplication; Italian mutation spectrum; Large genomic mutations; Multiplex Ligation Probe Amplification

Indexed keywords

ATM PROTEIN;

ARTICLE; ATAXIA TELANGIECTASIA; CLINICAL ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; GENETIC SCREENING; HAPLOTYPE; HEMIZYGOSITY; HUMAN; MULTIPLEX LIGATION PROBE AMPLIFICATION; MUTATION RATE; MUTATIONAL ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; SCREENING TEST;

CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA; DNA-BINDING PROTEINS; EXONS; GENE DELETION; GENE DUPLICATION; GENETIC MARKERS; HAPLOTYPES; HUMANS; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; TANDEM REPEAT SEQUENCES; TUMOR SUPPRESSOR PROTEINS;

ATAXIA TELANGIECTASIA;

EID: 37849014876     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2007.00399.x     Document Type: Article

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