Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

Clinical Genetics

Volumn 81, Issue 1, 2012, Pages 99-101

  Bartoli, M ^a   Negre P ^b   Wein, N ^a   Bourgeois, P ^b   Pecheux C ^b   Levy N ^a,b   Krahn, Martin ^a,b  

^a AIX MARSEILLE UNIVERSITY   (France)

^b TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; DYSFERLIN;

COMPARATIVE GENOMIC HYBRIDIZATION; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; LETTER; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VALIDATION STUDY;

CALPAIN; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; GENE REARRANGEMENT; GENOME, HUMAN; HUMANS; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION;

EID: 83355167156     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01708.x     Document Type: Letter

References (5)

1. Saillour Y, Cossee M, Leturcq F et al. Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat 2008: 29: 1083-1090.
2. Hegde MR, Chin EL, Mulle JG et al. Microarray-based mutation detection in the dystrophin gene. Hum Mutat 2008: 29: 1091-1099.
3. Krahn M, Borges A, Navarro C et al. Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR. Genet Test Mol Biomarkers 2009: 13: 439-442.
4. Krahn M, Wein N, Bartoli M et al. A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Sci Transl Med 2010: 2: 50ra69.
5. Krahn M, Pecheux C, Chapon F et al. Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay. Clin Genet 2007: 72: 582-592.