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Article

Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.

Molecular therapy : the journal of the American Society of Gene Therapy - 1 Apr 2016

Turan Soeren, Farruggio Alfonso P, Srifa Waracharee, Day John W, Calos Michele P

Abstract excerpt

Limb girdle muscular dystrophies types 2B (LGMD2B) and 2D (LGMD2D) are degenerative muscle diseases caused by mutations in the dysferlin and alpha-sarcoglycan genes, respectively. Using patient-derived induced pluripotent stem cells (iPSC), we corrected the dysferlin nonsense mutation c.5713C>T; p.R1905X and the most common alpha-sarcoglycan mutation, missense c.229C>T; p.R77C, by single-stranded...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26916285
DOI: 10.1038/mt.2016.40
PMCID: PMC4886942

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