Work

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia

Year: 2013

Type: article

Source: Human Genetics

DOI: 10.1007/s00439-013-1326-z

Authors: Michael Landowski, Marie-Françoise O’Donohue, Christopher Buros, Roxanne Ghazvinian, Nathalie Montel-Lehry, Adrianna Vlachos, Colin A. Sieff, Peter E. Newburger, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Eva Atsidaftos, Jeffrey M. Lipton, Alan H. Beggs, Pierre-Emmanuel Gleizes, Hanna T. Gazda

Institutions: Boston Children's Hospital, Manton Center for Orphan Disease Research, Centre National de la Recherche Scientifique, Laboratoire de Biologie Moléculaire des Eucaryotes, Université de Toulouse, Feinstein Institute for Medical Research, Cohen Children's Medical Center, Schneider Children's Hospital, Harvard University, University of Massachusetts Chan Medical School, Medical University of Warsaw, Stanford Medicine, Stanford University

Language: English

Topic: Blood disorders and treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Diamond Blackfan Anemia Foundation, Agence Nationale de la Recherche, National Institutes of Health, National Heart, Lung, and Blood Institute

Awards: New Gene Discoveries and Biology of Ribosomes in Diamond-Blackfan Anemia, A Vital tool for the Study of DBA: The Diamond Blackfan Anemia Registry, New gene discoveries and biology of ribosomes in Diamond-Blackfan anemia.

OpenAlex ID: W2063764480

FWCI: 7.741

Cites: 28

Cited by: 106

Related to: 10