Digenic Inheritance in Cystinuria Mouse Model.

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Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1.

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Digenic Inheritance in Cystinuria Mouse Model.

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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Digenic Inheritance in Cystinuria Mouse Model.

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Digenic Inheritance in Cystinuria Mouse Model.

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type

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label

Digenic Inheritance in Cystinuria Mouse Model.

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Digenic Inheritance in Cystinuria Mouse Model.

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Digenic Inheritance in Cystinuria Mouse Model.

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Digenic Inheritance in Cystinuria Mouse Model.

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P1476

Digenic Inheritance in Cystinuria Mouse Model.

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P2093

Eduardo Salido

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Esther Prat

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Manuel Palacín

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Mariona Font-Llitjós

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Meritxell Espino

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Virginia Nunes

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P2860

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

Luminal heterodimeric amino acid transporter defective in cystinuria

An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice.

The molecular bases of cystinuria and lysinuric protein intolerance.

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice.

Pathophysiology and treatment of cystinuria.

Obligatory amino acid exchange via systems bo,+-like and y+L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic amino acids.

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e0137277

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scholarly article

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10.1371/JOURNAL.PONE.0137277

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English

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Miguel López de Heredia

Clara Vilches

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2015-09-11T00:00:00Z

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281679966

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26359869

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4567282

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Digenic Inheritance in Cystinuria Mouse Model.

about

P2860

P2860

Digenic Inheritance in Cystinuria Mouse Model.

description

name

type

label

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P932