Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

Neuromuscular Disorders

Volumn 23, Issue 1, 2013, Pages 56-65

  Kiiski, K ^a   Laari, L ^a   Lehtokari, V L ^a   Lunkka Hytonen M ^a   Angelini, C ^b   Petty, R ^c   Hackman, P ^a   Wallgren Pettersson, C ^a   Pelin, K ^d  

^a UNIVERSITY OF HELSINKI   (Finland)

^b IRCSS San Camillo   (Italy)

^c SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Array comparative genomic hybridization (aCGH); Copy number variation; Deletion; NEB; Nebulin; Nemaline myopathy; NM CGH

Indexed keywords

DNA; NEBULIN;

ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA EXTRACTION; EXON; FAMILY; GENE DELETION; HUMAN; INTRON; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEBULIN GENE; NEMALINE MYOPATHY; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; VALIDATION PROCESS;

CASE-CONTROL STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; EXONS; FEMALE; FINLAND; GENE DELETION; HUMANS; JEWS; MALE; MICROARRAY ANALYSIS; MUSCLE PROTEINS; MUTATION; MYOPATHIES, NEMALINE;

EID: 84872390341     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.07.007     Document Type: Article

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