Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
- Auer-Grumbach, Michaela
- Olschewski, Andrea
- Papić, Lea
- Kremer, Hannie
- McEntagart, Meriel E
- Uhrig, Sabine
- Fischer, Carina
- Fröhlich, Eleonore
- Bálint, Zoltán
- Tang, Bi
- Strohmaier, Heimo
- Lochmüller, Hanns
- Schlotter-Weigel, Beate
- Senderek, Jan
- Krebs, Angelika
- Dick, Katherine J
- Petty, Richard
- Longman, Cheryl
- Anderson, Neil E
- Padberg, George W
- Schelhaas, Helenius J
- van Ravenswaaij-Arts, Conny M A
- Pieber, Thomas R
- Crosby, Andrew H
- Guelly, Christian
- 2009-12-27
Published in:
- Nature Genetics. - Springer Science and Business Media LLC. - 2009, vol. 42, no. 2, p. 160-164
- Language
-
- English
- Open access status
- green
- Identifiers
-
- DOI 10.1038/ng.508
- ISSN 1061-4036
- Persistent URL
- https://sonar.ch/global/documents/40222
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