Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

Human Mutation

Volumn 29, Issue 9, 2008, Pages 1083-1090

  Saillour, Yoann ^a,b   Cossée, Mireille ^a,b,c   Leturcq, France ^a,b,c   Vasson, Aurélie ^c   Beugnet, Caroline ^c   Poirier, Karine ^a,b   Commere, Virginie ^c   Sublemontier, Sébastien ^c   Viel, Marion ^c   Letourneur, Franck ^a,b   Barbot, Jean Claude ^c   Deburgrave, Nathalie ^c   Chelly, Jamel ^a,b,c   Bienvenu, Thierry ^a,b,c  

^a INSTITUT COCHIN   (France)

^b INSERM   (France)

^c Laboratoire de Biochimie et Génétique Moléculaire ^*  (France)

Author keywords

CFTR; CGH array; CNV; DMD; Exonic copy number variation; Sarcoglycanopathies; SGCA; SGCB; SGCD; SGCE; SGCG; SGCZ

Indexed keywords

DNA; SARCOGLYCAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CYSTIC FIBROSIS; EXON; GENE DELETION; GENE DUPLICATION; GENETIC SCREENING; HIGH THROUGHPUT SCREENING; HUMAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; X CHROMOSOME LINKED MUSCULAR DYSTROPHIC MOUSE;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; FEMALE; GENE DOSAGE; GENETIC DISEASES, INBORN; GENOTYPE; HUMANS; MALE; METHODS; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SARCOGLYCANS;

EID: 51549110776     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20829     Document Type: Article

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