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Renal aplasia in humans is associated with RET mutations

Authors :
Skinner, Michael A.
Safford, Shawn D.
Reeves, Justin G.
Jackson, Margaret E.
Freemerman, Alex J.
Source :
American Journal of Human Genetics. Feb, 2008, Vol. 82 Issue 2, p344, 8 p.
Publication Year :
2008

Abstract

The impact of mutations in different proteins, including RET, GDNF and GFRA1 on the development of renal aplasia in humans is discussed. The analysis reveals that the RET and GDNF mutations significantly contribute towards the development of abnormal kidney in patients.

Subjects

Subjects :
Gene mutations -- Research
Kidney diseases -- Genetic aspects
Kidney diseases -- Research
Biological sciences

Details

Language :
English
ISSN :
00029297
Volume :
82
Issue :
2
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.176458507

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