Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

BACKGROUND: Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases lacking molecular diagnosis. METHODS: Whole exome sequenc...

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Detalhes bibliográficos
Publicado no:Hum Genomics
Main Authors: Fichna, Jakub Piotr, Macias, Anna, Piechota, Marcin, Korostyński, Michał, Potulska-Chromik, Anna, Redowicz, Maria Jolanta, Zekanowski, Cezary
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Primary Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6029161/
https://ncbi.nlm.nih.gov/pubmed/29970176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-018-0167-1
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