Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb–Girdle Muscular Dystrophy Type 2A
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Clinical Neurology,Neurology,General Medicine
Reference9 articles.
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3. Calpainopathy-a survey of mutations and polymorphisms;Richard;Am J Hum Genet.,1999
4. High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia;Pogoda;Hum Mutat.,2000
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1. Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb–Girdle Muscular Dystrophy Patients;Frontiers in Neuroscience;2021-10-14
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