A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

BACKGROUND: Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flanking regions of genes was 99 %. All families were re...

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Detalles Bibliográficos
Autores principales: Monies, Dorota, Alhindi, Hindi N., Almuhaizea, Mohamed A., Abouelhoda, Mohamed, Alazami, Anas M., Goljan, Ewa, Alyounes, Banan, Jaroudi, Dyala, AlIssa, Abdulelah, Alabdulrahman, Khalid, Subhani, Shazia, El-Kalioby, Mohamed, Faquih, Tariq, Wakil, Salma M., Altassan, Nada A., Meyer, Brian F., Bohlega, Saeed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037890/
https://www.ncbi.nlm.nih.gov/pubmed/27671536
http://dx.doi.org/10.1186/s40246-016-0089-8

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