The value of clinical criteria in identifying patients with X-linked Alport syndrome
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Clinical utility gene card for: Alport syndromeImproving mutation screening in familial hematuric nephropathies through next generation sequencing.Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.The role of molecular genetics in diagnosing familial hematuria(s).Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis.HDAC inhibitors in experimental liver and kidney fibrosis.Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.COL4A3/COL4A4 mutations and features in individuals with autosomal recessive 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.DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.Familial haematuria: when to consider genetic testing.Clinical utility gene card for: Alport syndrome - update 2014.Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.[Hereditary hearing loss: Part 2: Syndromic forms of hearing loss].Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases
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P2860
The value of clinical criteria in identifying patients with X-linked Alport syndrome
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2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
The value of clinical criteria in identifying patients with X-linked Alport syndrome
@ast
The value of clinical criteria in identifying patients with X-linked Alport syndrome
@en
The value of clinical criteria in identifying patients with X-linked Alport syndrome
@nl
type
label
The value of clinical criteria in identifying patients with X-linked Alport syndrome
@ast
The value of clinical criteria in identifying patients with X-linked Alport syndrome
@en
The value of clinical criteria in identifying patients with X-linked Alport syndrome
@nl
prefLabel
The value of clinical criteria in identifying patients with X-linked Alport syndrome
@ast
The value of clinical criteria in identifying patients with X-linked Alport syndrome
@en
The value of clinical criteria in identifying patients with X-linked Alport syndrome
@nl
P2093
P2860
P356
P1476
The value of clinical criteria in identifying patients with X-linked Alport syndrome
@en
P2093
Frances Flinter
Helen Hanson
Judith Pagan
P2860
P304
P356
10.2215/CJN.00200110
P407
P50
P577
2010-09-30T00:00:00Z