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Hot topic: Recessive mutations in the a3(VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Movement disorders : official journal of the Movement Disorder Society - 1 Oct 2015

Balint Bettina, Bhatia Kailash P

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PMID: 26260724
DOI: 10.1002/mds.26355

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Hot topic: Recessive mutations in the a3(VI) collagen gene COL6A3 cause early-onset isolated dystonia.PMID 26260724Read ↗

The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).Semantic proximity Read ↗

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.Semantic proximity Read ↗

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Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.Semantic proximity Read ↗

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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrixSemantic proximity Read ↗

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New RDEB intermediate variant with in-frame partial exon skipping in FN III-like domain of type VII collagenSemantic proximity Read ↗

The role of mutations in COL6A3 in isolated dystonia.Semantic proximity Read ↗

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