Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
about
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesClinical and genetic diversity of SMN1-negative proximal spinal muscular atrophiesGenetic riskClinical neurogenetics: recent advances.Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder
P2860
Q28114961-BE2E3DA3-2CB7-4F39-A665-6E1FDAF5A448Q34399213-1EC39586-CE55-473B-ABE2-20DA0A9C91B4Q36164699-05F5AE8D-2E00-4222-860B-27B06B1F68B3Q38028332-EB5B48BE-CAFE-4F57-AF78-47E7C86CC777Q51448139-7DF93D05-BBF0-4543-A5B3-8E304C0C3C60Q52087282-45084D8A-C1DE-43C0-8E75-CA12ECE145C0Q57915582-E76949D8-149E-4F02-879D-759428C85A7F
P2860
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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2011年學術文章
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name
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
@en
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
@nl
type
label
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
@en
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
@nl
prefLabel
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
@en
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
@nl
P2093
P2860
P1433
P1476
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation
@en
P2093
Albena Jordanova
Antonio García
Eduardo López-Laso
Elena Gallardo
Jon Infante
Jonathan Baets
José Berciano
Onofre Combarros
Peter De Jonghe
Vincent Timmerman
P2860
P2888
P304
P356
10.1007/S00415-011-5947-7
P577
2011-02-19T00:00:00Z