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Absence of the α6(IV) Chain of Collagen Type IV in Alport Syndrome Is Related to a Failure at the Protein Assembly Level and Does Not Result in Diffuse Leiomyomatosis

X-linked Alport syndrome is a progressive nephropathy associated with mutations in the COL4A5 gene. The kidney usually lacks the α3-α6 chains of collagen type IV, although each is coded by a separate gene. The molecular basis for this loss remains unclear. In canine X-linked hereditary nephritis, a...

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Hlavní autoři: Zheng, Keqin, Harvey, Scott, Sado, Yoshikazu, Naito, Ichiro, Ninomiya, Yoshifumi, Jacobs, Robert, Thorner, Paul S.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Investigative Pathology 1999
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1866637/
https://ncbi.nlm.nih.gov/pubmed/10362815
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