Title: | Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes |
Journal : | Neuromuscular disorders : NMD, 23, 1 |
Authors: | Kiiski K ; Laari L ; Lehtokari VL ; Lunkka-Hytönen M ; Angelini C ; Petty R ; Hackman P ; Wallgren-Pettersson C ; Pelin K |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p 56 |
Languages: | English |
Keywords : | exon ; genetic deletions ; genetic heterogeneity ; genetic mutations ; heterozygotes ; human group ; microarrays ; NEB gene ; nebulin ; rod myopathy |
Pubmed / DOI : | Pubmed : 23010307 / DOI : 10.1016/j.nmd.2012.07.007 |