Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype.

Autor: Gupta, Prateek A., Putnam, Elizabeth A., Carmical, Sonya G., Kaitila, Ilkka, Steinmann, Beat, Child, Anne, Danesino, Cesare, Metcalfe, Kay, Berry, Susan A., Chen, Emily, Delorme, Catherine Vincent, Thong, Meow-Keong, Adès, Lesley C., Milewicz, Dianna M.
Zdroj: Human Mutation; Jan2002, Vol. 19 Issue 1, p39-48, 10p
Databáze: Complementary Index