Clinical utility gene card for: Alport syndrome - update 2014.
about
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysisIdentification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations.Alport Syndrome in Women and Girls.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.Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy.
P2860
Clinical utility gene card for: Alport syndrome - update 2014.
description
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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Clinical utility gene card for: Alport syndrome - update 2014.
@en
type
label
Clinical utility gene card for: Alport syndrome - update 2014.
@en
prefLabel
Clinical utility gene card for: Alport syndrome - update 2014.
@en
P2860
P356
P1476
Clinical utility gene card for: Alport syndrome - update 2014.
@en
P2093
Frances Flinter
Mads Thomassen
P2860
P2888
P356
10.1038/EJHG.2014.254
P577
2014-11-12T00:00:00Z
P6179
1030331818