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Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants

BACKGROUND: Limb‐girdle muscular dystrophy (LGMD) is a non‐syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes next‐generation sequencing (NGS) a nece...

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Detalles Bibliográficos
Autores principales: Mianesaz, Hamidreza, Ghalamkari, Safoura, Salehi, Mansoor, Behnam, Mahdiyeh, Hosseinzadeh, Majid, Basiri, Keivan, Ghasemi, Majid, Sedghi, Maryam, Ansari, Behnaz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938754/
https://www.ncbi.nlm.nih.gov/pubmed/36374152
http://dx.doi.org/10.1002/mgg3.2101