Novel Homozygous Mutation of the Internal Translation Initiation Start Site ofVHLis Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms-Reference-Cited by-同舟云学术

Novel Homozygous Mutation of the Internal Translation Initiation Start Site ofVHLis Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms

Published:2015-08-17 Issue:11 Volume:36 Page:1039-1042
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bartels Marije¹,van der Zalm Marieke M.¹,van Oirschot Brigitte A.²,Lee Frank S.³,Giles Rachel H.⁴,Kruip Marieke J.H.A.⁵,Gitz-Francois Jerney J.J.M.²,Van Solinge Wouter W.²,Bierings Marc¹,van Wijk Richard²

Affiliation:

1. Department of Pediatric Hematology/Oncology; University Medical Center Utrecht; Utrecht The Netherlands

2. Department of Clinical Chemistry and Haematology; University Medical Center Utrecht; Utrecht The Netherlands

3. Department of Pathology and Lab Medicine; Perelman School of Medicine; University of Pennsylvania; Philadelphia Pennsylvania

4. Department of Nephrology; University Medical Center Utrecht; Utrecht The Netherlands

5. Department of Hematology; Erasmus Medical Center; Rotterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22846/fullpdf

Reference30 articles.

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3. Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?);Bento;Eur J Haematol,2013

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5. Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment;Cario;Ann Hematol,2005

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4. Update on mutations in the HIF: EPO pathway and their role in erythrocytosis;Blood Reviews;2019-09

5. Molecular Genetics of Renal Cancer;eLS;2016-09-15