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Journal article

Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure

Abstract:

Background For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney failure.Methods We clinically and genetically characterized members of five families with autosomal dominant renal Fanconi syndrome and kidney failure. We performed genome-wide linkage analysis, sequencing, and expression studies in kidney biopsy specimens and renal cells along with knockout ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1681/asn.2017111179

Authors


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Funding agency for:
Reichold, M
Grant:
SFB699
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Funding agency for:
Reinders, J
Grant:
SFB699
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Publisher:
American Society of Nephrology Publisher's website
Journal:
Journal of the American Society of Nephrology Journal website
Volume:
29
Issue:
7
Pages:
1849-1858
Publication date:
2018-04-13
Acceptance date:
2018-02-27
DOI:
EISSN:
1533-3450
ISSN:
1046-6673
Pmid:
29654216
Source identifiers:
843430
Language:
English
Keywords:
Pubs id:
pubs:843430
UUID:
uuid:57e146d1-bfee-48e7-b94e-be3c50aaad2d
Local pid:
pubs:843430
Deposit date:
2018-05-03

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