about
Ocular features in Alport syndrome: pathogenesis and clinical significanceA Novel Mutation in a Kazakh Family with X-Linked Alport SyndromeProgression of Alport Kidney Disease in Col4a3 Knock Out Mice Is Independent of Sex or Macrophage Depletion by Clodronate TreatmentCOL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.Genetic testing can resolve diagnostic confusion in Alport syndrome.Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment.The 2014 International Workshop on Alport Syndrome.The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations.Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.Evidence of digenic inheritance in Alport syndrome.The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
name
Clinical utility gene card for: Alport syndrome
@ast
Clinical utility gene card for: Alport syndrome
@en
Clinical utility gene card for: Alport syndrome
@nl
type
label
Clinical utility gene card for: Alport syndrome
@ast
Clinical utility gene card for: Alport syndrome
@en
Clinical utility gene card for: Alport syndrome
@nl
prefLabel
Clinical utility gene card for: Alport syndrome
@ast
Clinical utility gene card for: Alport syndrome
@en
Clinical utility gene card for: Alport syndrome
@nl
P2860
P356
P1476
Clinical utility gene card for: Alport syndrome
@en
P2093
Frances Flinter
Mads Thomassen
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P2888
P356
10.1038/EJHG.2011.237
P407
P577
2011-12-14T00:00:00Z
P5875
P6179
1049597889