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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
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- Nature Genetics, 2010, v. 42, n. 2, p. 160, doi. 10.1038/ng.508
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- Article
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 6, p. 1839, doi. 10.1093/brain/awr076
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- Article
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
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- Journal of Neurology, 2012, v. 259, n. 3, p. 515, doi. 10.1007/s00415-011-6213-8
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- Article