换一批
换一批Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
作者：
Chakraborty,P.K. [1]
;
Schmitz-Abe,K. [2]
;
Kennedy,E.K. [3]
;
Mamady,H. [4]
;
Naas,T. [5]
;
Durie,D. [6]
;
Campagna,D.R. [7]
;
Lau,A. [8]
;
Sendamarai,A.K. [9]
;
Wiseman,D.H. [10]
;
May,A. [11]
;
Jolles,S. [12]
;
Connor,P. [13]
;
Powell,C. [14]
;
Heeney,M.M. [15]
;
Giardina,P.-J. [16]
;
Klaassen,R.J. [17]
;
Kannengiesser,C. [18]
;
Thuret,I. [19]
;
Thompson,A.A. [20]
;
Marques,L. [21]
;
Hughes,S. [22]
;
Bonney,D.K. [23]
;
Bottomley,S.S. [24]
;
Wynn,R.F. ;
Laxer,R.M. ;
Minniti,C.P. ;
Moppett,J. ;
Bordon,V. ;
Geraghty,M. ;
Joyce,P.B.M. ;
Markianos,K. ;
Rudner,A.D. ;
Holcik,M. ;
Fleming,M.D.
作者单位：
Department of Pediatric Hemato-Oncology and Stem Cells Transplant, Universitair ZiekenhuisGhent
[1]
Dana-Farber/Boston Children's Cancer, Blood Disorders CenterBoston, MA, United States
[2]
Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of HealthBethesda
[3]
Department of Paediatrics, Children's Hospital for WalesCardiff, United Kingdom
[4]
Molecular Biomedicine Program, Children's Hospital of Eastern Ontario Research Institute
[5]
Department of Haematology, Cardiff University, School of MedicineCardiff, United Kingdom
[6]
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Ann and Robert H
[7]
Department of Chemistry and Biochemistry, Center for Structural and Functional Genomics, Concordia
[8]
Department of Pediatrics, Children's Hospital of Eastern Ontario, University of OttawaOttawa, ON
[9]
Department of Pediatric Hematology, H?pital de la TimoneMarseille, France
[10]
Department of Pathology, Boston Children's Hospital, 300 Longwood Ave.Boston, MA, United States
[11]
Paediatric Department, Infectious Diseases and Immunodeficiencies Unit, Centro Hospitalar do
[12]
Department of Medicine, Hematology-Oncology Section, University of Oklahoma College of
[13]
Department of Haematology, Royal Manchester Children's HospitalManchester, United Kingdom
[14]
Department of Child Health, Institute of Molecular and Experimental Medicine, School of
[15]
Division of Hematology-Oncology, Children's Cancer and Blood Foundation Laboratories, Weill Cornell
[16]
Newborn Screening Ontario, Department of Pediatrics, Children's Hospital of Eastern Ontario, 401
[17]
Department of Paediatrics and Medicine, Hospital for Sick Children, University of TorontoON, Canada
[18]
Bristol Children's HospitalBristol, United Kingdom
[19]
Division of Genetics and Genomics, Department of Medicine, Boston Children's HospitalBoston, MA
[20]
Immunodeficiency Centre for Wales, University Hospital of WalesCardiff, United Kingdom
[21]
Department of Immunology, Royal Manchester Children's HospitalManchester, United Kingdom
[22]
INSERM UMR773, Université Paris Diderot, Assistance Publique des Hospitaux de ParisParis, France
[23]
Ottawa Institute of Systems Biology and BMI, University of OttawaOttawa, ON, Canada
[24]
发布时间
2015-02-03
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