Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein-Reference-Cited by-同舟云学术

Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein

Published:2017-06-01 Issue:12 Volume:32 Page:2010-2017
ISSN:0931-0509
Container-title:Nephrology Dialysis Transplantation
language:en
Short-container-title:

Author:

Yamamoto Satoko,Kaimori Jun-Ya,Yoshimura Takuji,Namba Tomoko,Imai Atsuko,Kobayashi Kaori,Imamura Ryoichi,Ichimaru Naotsugu,Kato Kazuto,Nakaya Akihiro,Takahara Shiro,Isaka Yoshitaka

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Link

http://academic.oup.com/ndt/article-pdf/32/12/2010/22144384/gfx083.pdf

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3. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing;Nat Genet,2013

4. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy;J Med Genet,2002

5. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure;Am J Hum Genet,2009

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