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A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
Amelie T. van der Ven; Birgit Kobbe; Stefan Kohl; Shirlee Shril; Hans-Martin Pogoda; Thomas Imhof; Hadas Ityel; Asaf Vivante; Jing Chen; Daw-Yang Hwang
刊名PLoS One
2018
卷号Vol.13 No.1页码:e0191224
ISSN号1932-6203
URL标识查看原文
公开日期[db:dc_date_available]
内容类型期刊论文
URI标识http://www.corc.org.cn/handle/1471x/5461713
专题湖南大学
作者单位1.Division of Nephrology, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
2.Center for Biochemistry, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany
3.Department of Pediatrics, Cologne Children’s Hospital, Cologne, Germany
4.Institute of Zoology-Developmental Biology, Biocenter Cologne, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany
5.Institute for Dental Research and Oral Musculoskeletal Biology, Medical Faculty, University of Cologne, Cologne, Germany
6.Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel
7.Department of Nephrology, Children’s Hospital of Fudan University, Shanghai, China
8.Division of Nephrology, Department of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan
9.Department of Pediatric Nephrology, Dr. Mehta’s Multispeciality Hospital, Chennai, India 10 Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children, the Tamil Nadu Dr. M.G.R. Medical University, Chennai, Tamil Nadu, India 11 Medical Faculty Skopje, University Children’s Hospital, Skopje, Macedonia 12 Division of Urology, Department of Surgery, Nazarbayev University, Astana, Kazakhstan 13 Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, United States of America 14 Howard Hughes Medical Institute, Chevy Chase, Maryland, United States of America 15 Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Cairo University, Egyptian Group for Orphan Renal Diseases, Cairo, Egypt 16 Renal Section, Department of Medicine, Boston University Medical Center, Boston, Massachusetts, United States of America 17 Department of Urology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, United States of America National Cancer Institute, UNITED STATES
推荐引用方式
GB/T 7714
Amelie T. van der Ven,Birgit Kobbe,Stefan Kohl,et al. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux[J]. PLoS One,2018,Vol.13 No.1:e0191224.
APA Amelie T. van der Ven.,Birgit Kobbe.,Stefan Kohl.,Shirlee Shril.,Hans-Martin Pogoda.,...&Friedhelm Hildebrandt.(2018).A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.PLoS One,Vol.13 No.1,e0191224.
MLA Amelie T. van der Ven,et al."A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux".PLoS One Vol.13 No.1(2018):e0191224.
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