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T1  - An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders 
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UR  - http://hdl.handle.net/10138/299668 
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A1  - Sagath, L.; Lehtokari, V.-L.; Välipakka, S.; Udd, B.; Wallgren-Pettersson, C.; Pelin, K.; Kiiski, K. 
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Y1  - 2018 
LA  - eng 
AB  - Background: Our previous array, the Comparative Genomic Hybridisation design (CGH-array) for nemaline myopathy (NM), named the NM-CGH array, revealed pathogenic copy number variation (CNV) in the genes for nebulin (NEB) and tropomyosin 3 (TPM3), as well as recurrent CNVs in the segmental duplication (SD), i.e. triplicate, region of NEB (TRI, exons 82-89, 90-97, 98-105). In the light of this knowledge, we have designed and validated an extended CGH array, which includes a selection of 187 genes k... 
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KW  - connectin; DNA; muscle protein; nebulin; TTN protein, human, Article; clinical article; comparative genomic hybridization; controlled study; copy number variation; gene deletion; gene duplication; gene loss; genetic association; genetic gain; human; mutational analysis; NEB gene; neuromuscular disease; pathogenicity; priority journal; reliability; TTN gene; adult; DNA microarray; female; genetics; genomics; male; microarray analysis; mutation; nemaline myopathy; procedures; reproducibility, Adult; Connectin; DNA Copy Number Variations; Female; Genomics; Humans; Male; Microarray Analysis; Muscle Proteins; Mutation; Myopathies, Nemaline; Neuromuscular Diseases; Oligonucleotide Array Sequence Analysis; Reproducibility of Results; 1184 Genetics, developmental biology, physiology; 3112 Neurosciences; 3121 General medicine, internal medicine and other clinical medicine 
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