Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
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Cystinuria: an inborn cause of urolithiasisReport of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study.Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.Multi-tissue computational modeling analyzes pathophysiology of type 2 diabetes in MKR mice.Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.Clinical and genetic analysis of patients with cystinuria in the United Kingdom.Delineation of cystinuria in Saudi Arabia: A case seriesCystinuria-a urologist's perspective.Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.How should patients with cystine stone disease be evaluated and treated in the twenty-first century?Defective SLC7A9 causes cystinuria (CSNU)Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.Defective SLC3A1 (in SLC7A9:SLC3A1) does not exchange L-Arg; CySS-; L-Lys for L-LeuThe genetic diversity of cystinuria in a UK population of patients.The genetic framework for development of nephrolithiasis.
P2860
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P2860
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
@zh-hans
2011年学术文章
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2011年學術文章
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name
Clinical, biochemical and mole ...... ia in a cohort of 12 patients.
@en
Clinical, biochemical and mole ...... ia in a cohort of 12 patients.
@nl
type
label
Clinical, biochemical and mole ...... ia in a cohort of 12 patients.
@en
Clinical, biochemical and mole ...... ia in a cohort of 12 patients.
@nl
prefLabel
Clinical, biochemical and mole ...... ia in a cohort of 12 patients.
@en
Clinical, biochemical and mole ...... ia in a cohort of 12 patients.
@nl
P2093
P2860
P50
P1433
P1476
Clinical, biochemical and mole ...... ia in a cohort of 12 patients.
@en
P2093
A M Fortuna
M L Cardoso
M do Céu Mota
P De Bonis
P2860
P356
10.1111/J.1399-0004.2011.01638.X
P50
P577
2011-02-14T00:00:00Z