Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
about
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutationsSelected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencingPrimary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferaseCluster analysis and phylogenetic relationship in biomarker identification of type 2 diabetes and nephropathy.Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
P2860
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene
@nl
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
@ast
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
@en
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
@en-gb
type
label
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene
@nl
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
@ast
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
@en
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
@en-gb
prefLabel
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene
@nl
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
@ast
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
@en
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
@en-gb
P2860
P356
P1476
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
@en
P2093
von Schnakenburg C
P2860
P304
P356
10.1136/JMG.34.6.489
P407
P577
1997-06-01T00:00:00Z