Identification of New Rare Sequence Changes in RP Genes in Diamond-Blackfan Anemia and Association of the RPL5 and RPL11 Mutations with Craniofacial and Thumb Malformations
Year: 2008
Type: article
Study design: Observational Study
Source: Blood
Authors: Hanna T. Gazda, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Francoise O’Donohue, Hal Schneider, Natasha Darras, Catherine Hasman, Colin A. Sieff, Peter E. Newburger, Sarah Ball, Edyta Niewiadomska, Michal Matysiak, Jan M. Zaucha, Bertil Glader, Charlotte Niemeyer, Joerg J. Meerpohl, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, Alan H. Beggs
Institutions: Boston Children's Hospital, Harvard University, Feinstein Institute for Medical Research, Schneider Children's Hospital, Centre National de la Recherche Scientifique, Laboratoire de Biologie Moléculaire des Eucaryotes, Université de Toulouse, University of Massachusetts Chan Medical School, Imperial College London, Medical University of Warsaw, Gdańsk Medical University, Stanford Medicine, Stanford University, University of Freiburg
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W2979935747