New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
about
Kidney stone disease.Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.Changing paradigms in diagnosis of inherited defects associated with urolithiasisCystinuria: an inborn cause of urolithiasisDeletion of PREPl causes growth impairment and hypotonia in micePREPL: a putative novel oligopeptidase propelled into the limelight.Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.Clinical review. Kidney stones 2012: pathogenesis, diagnosis, and management.Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndromeRenal lithiasis and nutrition.Digenic Inheritance in Cystinuria Mouse Model.Clinical and genetic analysis of patients with cystinuria in the United Kingdom.Update on cystinuria.Cystinuria Associated with Different SLC7A9 Gene Variants in the CatDigenic inheritance in medical geneticsWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Cystinuria: mechanisms and management.Cystinuria-a urologist's perspective.How should patients with cystine stone disease be evaluated and treated in the twenty-first century?Carrier subunit of plasma membrane transporter is required for oxidative folding of its helper subunit.Clinical utility gene card for: Cystinuria.Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.Contribution of stone size to chronic kidney disease in kidney stone formers.Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.Defective SLC7A9 (in SLC7A9:SLC3A1) does not exchange L-Arg; CySS-; L-Lys for L-LeuThe structural and functional units of heteromeric amino acid transporters. The heavy subunit rBAT dictates oligomerization of the heteromeric amino acid transporters.Chromosomal microdeletions and genes' functions: a cluster of chromosomal microdeletions and the deleted genes' functions.Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis.The genetic diversity of cystinuria in a UK population of patients.Cystinuria in a 13-month-old Girl with Absence of Mutations in the SLC3A1 and SLC7A9 Genes.
P2860
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P2860
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2005年の論文
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2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
name
New insights into cystinuria: ...... nce causing partial phenotype.
@ast
New insights into cystinuria: ...... nce causing partial phenotype.
@en
New insights into cystinuria: ...... nce causing partial phenotype.
@nl
type
label
New insights into cystinuria: ...... nce causing partial phenotype.
@ast
New insights into cystinuria: ...... nce causing partial phenotype.
@en
New insights into cystinuria: ...... nce causing partial phenotype.
@nl
prefLabel
New insights into cystinuria: ...... nce causing partial phenotype.
@ast
New insights into cystinuria: ...... nce causing partial phenotype.
@en
New insights into cystinuria: ...... nce causing partial phenotype.
@nl
P2093
P2860
P356
P1476
New insights into cystinuria: ...... nce causing partial phenotype.
@en
P2093
Bisceglia L
Di Perna M
Font-Llitjós M
Jiménez-Vidal M
de Sanctis L
P2860
P356
10.1136/JMG.2004.022244
P407
P577
2005-01-01T00:00:00Z