Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.
about
Ocular features in Alport syndrome: pathogenesis and clinical significanceAdvances in Alport syndrome diagnosis using next-generation sequencingCoinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsAlport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.Temporal macular thinning associated with X-linked Alport syndrome.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--insights from basic and clinical research.DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.Bull's eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch's membrane in Alport syndrome.Genotype-phenotype correlation in X-linked Alport syndromeIncreased Indoleamine 2,3-Dioxygenase and Quinolinic Acid Expression in Microglia and Müller Cells of Diabetic Human and Rodent RetinaA female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.Evidence of digenic inheritance in Alport syndrome.
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P2860
Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Alport retinopathy results fro ...... predicts early renal failure.
@ast
Alport retinopathy results fro ...... predicts early renal failure.
@en
Alport retinopathy results fro ...... predicts early renal failure.
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type
label
Alport retinopathy results fro ...... predicts early renal failure.
@ast
Alport retinopathy results fro ...... predicts early renal failure.
@en
Alport retinopathy results fro ...... predicts early renal failure.
@nl
prefLabel
Alport retinopathy results fro ...... predicts early renal failure.
@ast
Alport retinopathy results fro ...... predicts early renal failure.
@en
Alport retinopathy results fro ...... predicts early renal failure.
@nl
P2093
P2860
P356
P1476
Alport retinopathy results fro ...... predicts early renal failure.
@en
P2093
Deb Colville
Yan Yan Wang
P2860
P356
10.2215/CJN.01030209
P577
2009-12-03T00:00:00Z