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Journal article

Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.

Abstract:

Autosomal dominant polycystic kidney disease (PKD) is the most common genetic disease that leads to kidney failure in humans. In addition to the known causative genes PKD1 and PKD2, there are mutations that result in cystic changes in the kidney, such as nephronophthisis, autosomal recessive polycystic kidney disease, or medullary cystic kidney disease. Recent efforts to improve the understanding of renal cystogenesis have been greatly enhanced by studies in rodent models of PKD. Genetic stud...

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Publication status:
Published

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Publisher copy:
10.1681/asn.2005060601

Authors


Bihoreau, MT More by this author
Hoffmann, S More by this author
Kränzlin, B More by this author
Tychinskaya, I More by this author
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Journal:
Journal of the American Society of Nephrology : JASN
Volume:
16
Issue:
12
Pages:
3517-3526
Publication date:
2005-12-05
DOI:
EISSN:
1533-3450
ISSN:
1046-6673
URN:
uuid:67c43f9c-fc7e-4ff2-941c-435e90f18f5f
Source identifiers:
19916
Local pid:
pubs:19916

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