作者：
Hao,Lu [1]
;
Maria C Rondón,Galeano [2]
;
Elisabeth,Ott [3]
;
Geraldine,Kaeslin [2]
;
P Jaya,Kausalya [1]
;
Carina,Kramer [3]
;
Nadina,Ortiz-Brüchle [4]
;
Nadescha,Hilger [4]
;
Vicki,Metzis [2]
;
Milan,Hiersche [5]
;
Shang Yew,Tay [1]
;
Robert,Tunningley [6]
;
Shubha,Vij [1]
;
Andrew D,Courtney [2]
;
Belinda,Whittle [6]
;
Elke,Wühl [7]
;
Udo,Vester [8]
;
Björn,Hartleben [9]
;
Steffen,Neuber [5]
;
Valeska,Frank [5]
;
Melissa H,Little [2]
;
Daniel,Epting [3]
;
Peter,Papathanasiou [6]
;
Andrew C,Perkins [2]
;
Graham D,Wright [10]
;
Walter,Hunziker [11]
;
Heon Yung,Gee [1]
;
Edgar A,Otto [12]
;
Klaus,Zerres [13]
;
Friedhelm,Hildebrandt [14]
;
Sudipto,Roy [15]
;
Carol,Wicking [16]
;
Carsten,Bergmann [4]
作者单位：
Institute of Molecular and Cell Biology, Singapore.
[1]
Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
[2]
Department of Medicine IV, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
[3]
Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.
[4]
Center for Human Genetics, Bioscientia, Ingelheim, Germany.
[5]
John Curtin School of Medical Research, Australian National University, Acton, Australian Capital Territory, Australia.
[6]
Division of Pediatric Nephrology, University Children's Hospital Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.
[7]
Department of Pediatric Nephrology, University Children's Hospital Essen, Essen, Germany.
[8]
Institute of Pathology, MHH University Medical School Hannover, Hannover, Germany.
[9]
Mater Research Institute, Faculty of Medicine and Biomedical Sciences, The University of Queensland, Woolloongabba, Queensland, Australia.
[10]
Institute of Medical Biology, A*STAR, Singapore.
[11]
Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
[12]
Singapore Eye Research Institute, Singapore.
[13]
Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
[14]
Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Republic of Korea.
[15]
Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA.
[16]
Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
[17]
Department of Biological Sciences, National University of Singapore, Singapore.
[18]
主题词
畸形, 多发性(Abnormalities, Multiple);衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);动物(Animals);中心粒(Centrioles);染色体, 人, 3对(Chromosomes, Human, Pair 3);纤毛(Cilia);近亲(Consanguinity);疾病模型, 动物(Disease Models, Animal);胚胎, 非哺乳动物(Embryo, Nonmammalian);女(雌)性(Female);基因敲低技术(Gene Knockdown Techniques);基因连锁(Genetic Linkage);人类(Humans);男(雄)性(Male);膜蛋白质类(Membrane Proteins);小鼠(Mice);小鼠, 近交C57BL(Mice, Inbred C57BL);系谱(Pedigree);多囊肾, 常染色体隐性(Polycystic Kidney, Autosomal Recessive);蛋白质转运(Protein Transport);氯苄乙胺(Septins);TRPP阳离子通道(TRPP Cation Channels);斑马鱼(Zebrafish);斑马鱼蛋白质类(Zebrafish Proteins)
DOI
10.1038/ng.3871
PMID
28530676
发布时间
2020-11-11
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