Molecular Characterization of 140 Patients in the Pyruvate Kinase Deficiency (PKD) Natural History Study (NHS): Report of 20 New Variants
Paola Bianchi(University of Pavia), Rachael F. Grace(Dana-Farber/Boston Children's Cancer and Blood Disorders Center), Yves Pastore(Centre Hospitalier Universitaire Sainte-Justine), Mukta Sharma(Children's Mercy Hospital), Melissa J. Rose(Nationwide Children's Hospital), Hassan M. Yaish(Primary Children's Hospital), Bertil Glader(Stanford University), Marcin W. Włodarski(St. Jude Children's Research Hospital), Jennifer Rothman(Duke Medical Center), Patrick G. Gallagher(Nationwide Children's Hospital), Wilma Barcellini(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Alexis A. Thompson(Children's Hospital of Philadelphia), Joachim B. Kunz(Heidelberg University), D. Holmes Morton(Clinic for Special Children), Stefan Eber(Clinic for Special Children), Jenny M. Despotovic(Baylor College of Medicine), Yaddanapudi Ravindranath(The Barbara Ann Karmanos Cancer Institute), Kimberly Lezon-Geyda(Yale University), Kevin H.M. Kuo(University Health Network), Peter E. Newburger(UMass Memorial Health Care), Christine Knoll(McMaster University), Melissa Rhodes(Emory University Hospital Midtown), Elisa Fermo(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Kerri Nottage(St. Jude Children's Research Hospital), Heng Wang(Zhejiang Provincial People's Hospital), Dongjing Guo(Dana-Farber/Boston Children's Cancer and Blood Disorders Center), Wendy B. London(Dana-Farber Cancer Institute), Patricia J. Giardina(Cornell University), Eduard J. van Beers(Utrecht University)
Cited by 4
Related Papers
The genetic landscape of high-risk neuroblastoma
|Nature Genetics|2013|1.2k
Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
|The American Journal of Human Genetics|2008|417