作者：
Nikhita Ajit,Bolar [1]
;
Christelle,Golzio [2]
;
Martina,Živná [3]
;
Gaëlle,Hayot [2]
;
Christine,Van Hemelrijk [4]
;
Dorien,Schepers [1]
;
Geert,Vandeweyer [1]
;
Alexander,Hoischen [5]
;
Jeroen R,Huyghe [1]
;
Ann,Raes [4]
;
Erve,Matthys [6]
;
Emiel,Sys [7]
;
Myriam,Azou [7]
;
Marie-Claire,Gubler [8]
;
Marleen,Praet [9]
;
Guy,Van Camp [1]
;
Kelsey,McFadden [2]
;
Igor,Pediaditakis [2]
;
Anna,Přistoupilová [3]
;
Kateřina,Hodaňová [3]
;
Petr,Vyleťal [3]
;
Hana,Hartmannová [3]
;
Viktor,Stránecký [3]
;
Helena,Hůlková [3]
;
Veronika,Barešová [3]
;
Ivana,Jedličková [3]
;
Jana,Sovová [3]
;
Aleš,Hnízda [10]
;
Kendrah,Kidd [11]
;
Anthony J,Bleyer [11]
;
Richard S,Spong [12]
;
Johan,Vande Walle [4]
;
Geert,Mortier [1]
;
Han,Brunner [5]
;
Lut,Van Laer [1]
;
Stanislav,Kmoch [3]
;
Nicholas,Katsanis [2]
;
Bart L,Loeys [13]
作者单位：
Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp 2650, Belgium.
[1]
Center for Human Disease Modeling and Departments of Cell Biology and Psychiatry, Duke University, Durham, NC 27710, USA.
[2]
Institute for Inherited Metabolic Disorders, Prague, First Faculty of Medicine, Charles University in Prague, 120 00 Prague, Czech Republic.
[3]
Department of Pediatric Nephrology, University Hospital of Ghent, Ghent 9000, Belgium.
[4]
Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands.
[5]
Department of Nephrology, Sint-Jan Hospital, Brugge 8000, Belgium.
[6]
Department of Nephrology, Sint-Lucas Hospital, Brugge 8310, Belgium.
[7]
INSERM, U983, Paris Cedex 15, France.
[8]
Department of Pathology, University Hospital of Ghent, Ghent 9000, Belgium.
[9]
Institute of Organic Chemistry and Biochemistry, Academy of Sciences of the Czech Republic, 166 10 Prague, Czech Republic.
[10]
Section on Nephrology, Wake Forest School of Medicine, Medical Center Blvd., Winston-Salem, NC 27157, USA.
[11]
Department of Medicine, Division of Renal Diseases and Hypertension, University of Minnesota, MN 55455, USA.
[12]
Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp 2650, Belgium; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands. Electronic address: bart.loeys@uantwerpen.be.
[13]
主题词
成年人(Adult);老年人(Aged);等位基因(Alleles);氨基酸序列(Amino Acid Sequence);贫血(Anemia);动物(Animals);活组织检查(Biopsy);儿童(Child);慢性病(Chronic Disease);疾病恶化(Disease Progression);内质网(Endoplasmic Reticulum);女(雌)性(Female);胎儿生长迟缓(Fetal Growth Retardation);基因, 显性(Genes, Dominant);高尔基体(Golgi Apparatus);杂合子(Heterozygote);人类(Humans);婴儿, 新生(Infant, Newborn);肾疾病(Kidney Diseases);男(雄)性(Male);中年人(Middle Aged);模型, 分子(Models, Molecular);突变(Mutation);突变, 误义(Mutation, Missense);中性粒细胞减少(Neutropenia);系谱(Pedigree);表型(Phenotype);RNA, 信使(RNA, Messenger);综合征(Syndrome);青年人(Young Adult);斑马鱼(Zebrafish)
DOI
10.1016/j.ajhg.2016.05.028
PMID
27392076
发布时间
2023-01-12
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