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Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

Abstract:

Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding the α3α4α5(IV) collagen heterotrimer. AS is rare, but it accounts for >1% of patients receiving renal replacement therapy. Angiotensin-converting enzyme inhibition slows, but does not stop, the progression to renal failure; therefore, there is an urgent requirement to expa...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1093/ndt/gfw095

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Wellcome Trust More from this funder
Publisher:
Oxford University Press on behalf of ERAEDTA Publisher's website
Journal:
Nephrology Dialysis Transplantation Journal website
Volume:
32
Issue:
6
Pages:
916–924
Publication date:
2016-05-10
Acceptance date:
2016-03-29
DOI:
ISSN:
0931-0509 and 1460-2385
Pubs id:
pubs:622952
URN:
uri:af322bab-3d51-43b6-b806-8e9fc4edef26
UUID:
uuid:af322bab-3d51-43b6-b806-8e9fc4edef26
Local pid:
pubs:622952
Paper number:
6

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