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

Autor: Seemann, Petra1,2,3, Schwappacher, Raphaela3, Kjaer, Klaus W.4, Krakow, Deborah5, Lehmann, Katarina1, Dawson, Katherine5, Stricker, Sigmar1,2, Pohl, Jens6, Plöger, Frank6, Staub, Eike2, Nickel, Joachim7, Sebald, Walter7, Knaus, Petra3, Mundlos, Stefan1,2, Plöger, Frank (AUTHOR)
Zdroj: Journal of Clinical Investigation. Sep2005, Vol. 115 Issue 9, p2373-2381. 9p. 2 Color Photographs, 2 Diagrams, 1 Chart, 3 Graphs.
Databáze: Academic Search Ultimate