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X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure

Alport syndrome (ATS) results from X-linked, COL4A5 mutations (85%) or from autosomal recessive homozygous or compound heterozygous COL4A3/A4 mutations (15%), associated with alternate thinning and thickening as well as splitting and lamellation of the glomerular basement membranes. In contrast, fam...

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Bibliografische gegevens
Hoofdauteurs: Pierides, A, Voskarides, K, Kkolou, M, Hadjigavriel, M, Deltas, C
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: SOCIETY OF "FRIENDS OF HIPPOKRATIA JOURNAL" 2013
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3872455/
https://ncbi.nlm.nih.gov/pubmed/24470729
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