Auer-Grumbach, M; Olschewski, A; Papić, L; Kremer, H; McEntagart, ME; Uhrig, S; Fischer, C; Fröhlich, E; Bálint, Z; Tang, B; et al. Auer-Grumbach, M; Olschewski, A; Papić, L; Kremer, H; McEntagart, ME; Uhrig, S; Fischer, C; Fröhlich, E; Bálint, Z; Tang, B; Strohmaier, H; Lochmüller, H; Schlotter-Weigel, B; Senderek, J; Krebs, A; Dick, KJ; Petty, R; Longman, C; Anderson, NE; Padberg, GW; Schelhaas, HJ; van Ravenswaaij-Arts, CM; Pieber, TR; Crosby, AH; Guelly, C (2010) Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. NATURE GENETICS, 42 (2). 160 - U96 (7). ISSN 1061-4036 https://doi.org/10.1038/ng.508
SGUL Authors: Crosby, Andrew Harry McEntagart, Meriel

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Item Type:	Article
Additional Information:	PubMed ID: 20037588
Keywords:	Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, SPINAL MUSCULAR-ATROPHY, CATION CHANNEL, REPEAT DOMAIN, TRAFFICKING, LOCALIZATION, SENSITIVITY, DISEASE, BIND, MICE, Amino Acid Substitution, Ankyrin Repeat, Calcium, HeLa Cells, Hereditary Sensory and Motor Neuropathy, Humans, Immunohistochemistry, Intracellular Space, Ion Channel Gating, Models, Molecular, Molecular Sequence Data, Muscular Atrophy, Spinal, Mutant Proteins, Mutation, Osmosis, TRPV Cation Channels, Transfection
SGUL Research Institute / Research Centre:	Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title:	NATURE GENETICS
ISSN:	1061-4036
Related URLs:	Author
Dates:	Date Event 1 February 2010 Published
Web of Science ID:	WOS:000274084400014
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URI:	https://openaccess.sgul.ac.uk/id/eprint/529
Publisher's version:	https://doi.org/10.1038/ng.508

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