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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2005
Assuntos:
Research Article
Acesso em linha: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
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