Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

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Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

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http://www.wikidata.org/entity/Q48227178

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

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2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

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2017年學術文章

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Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

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Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

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Item

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Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

@en

Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

@nl

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Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

@en

Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

@nl

P1476

Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

@en

P2093

A Bourillon

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F Muller

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I Czerkiewicz

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I Tostivint

http://www.w3.org/2001/XMLSchema#string

M Nicolas

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N Royer

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P-H Becker

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P2860

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

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter

Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport

Cystinuria: an inborn cause of urolithiasis

The ancillary proteins of HATs: SLC3 family of amino acid transporters

CATs and HATs: the SLC7 family of amino acid transporters

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

CKD and Its Risk Factors among Patients with Cystinuria.

Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1.

P304

632-638

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P31

scholarly article

P356

10.1111/CGE.13079

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Jean-François Benoist

P577

2017-06-24T00:00:00Z

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P698

28646536

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