Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities. They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMP...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Seemann, Petra, Schwappacher, Raphaela, Kjaer, Klaus W., Krakow, Deborah, Lehmann, Katarina, Dawson, Katherine, Stricker, Sigmar, Pohl, Jens, Plöger, Frank, Staub, Eike, Nickel, Joachim, Sebald, Walter, Knaus, Petra, Mundlos, Stefan
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2005
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1190374/
https://ncbi.nlm.nih.gov/pubmed/16127465
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI25118
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars