An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

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...

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Detalles Bibliográficos
Autores principales: Sagath, Lydia, Lehtokari, Vilma-Lotta, Välipakka, Salla, Udd, Bjarne, Wallgren-Pettersson, Carina, Pelin, Katarina, Kiiski, Kirsi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2018
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087456/
https://www.ncbi.nlm.nih.gov/pubmed/30040739
http://dx.doi.org/10.3233/JND-170298

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087456/
https://www.ncbi.nlm.nih.gov/pubmed/30040739
http://dx.doi.org/10.3233/JND-170298

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