SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae
| Autor: | Bieganski, Tadeusz, Beighton, Peter, Lukaszewski, Maciej, Bik, Krzysztof, Kuszel, Lukasz, Wasilewska, Ewa, Kozlowski, Kazimierz, Czarny-Ratajczak, Malwina |
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| Zdroj: | In European Journal of Medical Genetics October 2017 60(10):509-516 |
| Databáze: | ScienceDirect |
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