Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure
about
Autosomal Dominant Tubulointerstitial Kidney Disease.A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.
P2860
Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure
description
2011 nî lūn-bûn
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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2011年论文
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name
Characterization of a recurren ...... minant end-stage renal failure
@ast
Characterization of a recurren ...... minant end-stage renal failure
@en
type
label
Characterization of a recurren ...... minant end-stage renal failure
@ast
Characterization of a recurren ...... minant end-stage renal failure
@en
prefLabel
Characterization of a recurren ...... minant end-stage renal failure
@ast
Characterization of a recurren ...... minant end-stage renal failure
@en
P2093
P2860
P356
P1476
Characterization of a recurren ...... minant end-stage renal failure
@en
P2093
Andrew P Stewart
Anthony G W Norden
Caroline Robinson
Emily L Edwards
Fiona E Karet Frankl
Graham D Smith
Hannah I Karet
Richard N Sandford
P2860
P304
P356
10.2215/CJN.06820711
P577
2011-10-27T00:00:00Z