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Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism
Proximal symphalangism (SYM1) is an autosomal dominant disorder, mainly characterized by bony fusions of the proximal phalanges of the hands and feet. GDF5 and NOG were identified to be responsible for SYM1. We have previously reported on a p.Leu373Arg mutation in the GDF5 proregion present in a Chi...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Impact Journals LLC
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5768378/ https://www.ncbi.nlm.nih.gov/pubmed/29371961 http://dx.doi.org/10.18632/oncotarget.23047 |