Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

BACKGROUND: Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to allow an accurate differential diagnosis based on the clinical signs only, lim...

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Detalles Bibliográficos
Autores principales: Harris, Elizabeth, Topf, Ana, Barresi, Rita, Hudson, Judith, Powell, Helen, Tellez, James, Hicks, Debbie, Porter, Anna, Bertoli, Marta, Evangelista, Teresinha, Marini-Betollo, Chiara, Magnússon, Ólafur, Lek, Monkol, MacArthur, Daniel, Bushby, Kate, Lochmüller, Hanns, Straub, Volker
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588739/
https://www.ncbi.nlm.nih.gov/pubmed/28877744
http://dx.doi.org/10.1186/s13023-017-0699-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588739/
https://www.ncbi.nlm.nih.gov/pubmed/28877744
http://dx.doi.org/10.1186/s13023-017-0699-9

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