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Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls

✍ Scribed by Fawcett, K. A.; Murphy, S. M.; Polke, J. M.; Wray, S.; Burchell, V. S.; Manji, H.; Quinlivan, R. M.; Zdebik, A. A.; Reilly, M. M.; Houlden, H.


Book ID
118064982
Publisher
BMJ Publishing Group
Year
2012
Tongue
English
Weight
303 KB
Volume
83
Category
Article
ISSN
0022-3050

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## Communicated by David N. Cooper Within nine dentin dysplasia (DD) (type II) and dentinogenesis imperfecta (type II and III) patient/families, seven have 1 of 4 net -1 deletions within the $2-kb coding repeat domain of the DSPP gene while the remaining two patients have splice-site mutations. Al