Renal aplasia in humans is associated with RET mutations
Article 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.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Gene mutations, Gene mutation
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
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Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
Article Abstract:
The first example of a recurrent genomic disorder associated with diabetes identified from samples from patients with epilepsy is described.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
United States, Diabetes, Diabetes mellitus, Epilepsy, Mutation (Biology), Mutation, Report
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
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Subjects list: Research, Genetic aspects, Kidney diseases
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