Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

Item
http://www.wikidata.org/entity/Q28202031
Q28157530
sameAs
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.New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.Bladder outlet obstruction in male cystinuria miceClinical and genetic analysis of patients with cystinuria in the United Kingdom.Delineation of cystinuria in Saudi Arabia: A case seriesCystinuria: mechanisms and management.Deleterious nonsynonymous single nucleotide polymorphisms in human solute carriers: the first comparison of three prediction methods.Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis.
P2860

Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

Item
http://www.wikidata.org/entity/Q28202031
description
2002 nî lūn-bûn
@nan
2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
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name
Cystinuria in children: distri ...... in the SLC3A1 and SLC7A9 genes
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Cystinuria in children: distri ...... in the SLC3A1 and SLC7A9 genes
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Cystinuria in children: distri ...... in the SLC3A1 and SLC7A9 genes
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type
label
Cystinuria in children: distri ...... in the SLC3A1 and SLC7A9 genes
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Cystinuria in children: distri ...... in the SLC3A1 and SLC7A9 genes
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Cystinuria in children: distri ...... in the SLC3A1 and SLC7A9 genes
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prefLabel
Cystinuria in children: distri ...... in the SLC3A1 and SLC7A9 genes
@ast
Cystinuria in children: distri ...... in the SLC3A1 and SLC7A9 genes
@en
Cystinuria in children: distri ...... in the SLC3A1 and SLC7A9 genes
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Cystinuria in children: distri ...... in the SLC3A1 and SLC7A9 genes
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P2888
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10.1111/J.1523-1755.2002.KID552.X
P407
P433
P478
P50
P577
P5875
P6179
P698