Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

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Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria

P2860

Q37570222-B049F24C-2FE3-412E-B6CD-4C833E0EB7E2

P2860

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

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http://www.wikidata.org/entity/Q35817051

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2015 nî lūn-bûn

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2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

@ast

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

@en

type

Item

label

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

@ast

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

@en

prefLabel

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

@ast

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

@en

P1476

Clinical and genetic analysis of patients with cystinuria in the United Kingdom

@en

P2093

Ayla Tabaksert

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David T Thwaites

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Hannah L Rhodes

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John A Sayer

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Laura Yarram-Smith

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Margaret Williams

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Mark N Woodward

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Noel Edwards

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Richard J M Coward

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Sarah L Smithson

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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

Cystinuria: an inborn cause of urolithiasis

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

Medical management of kidney stones: AUA guideline

The use of D-penicillamine in cystinuria: efficacy and untoward reactions

Percutaneous nephrolithotomy for staghorn calculi: a single center's experience over 15 years.

Extracorporeal shock wave lithotripsy in children. Efficacy, complications and long-term follow-up.

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

P304

1235-1245

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P31

scholarly article

P356

10.2215/CJN.10981114

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P433

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

P478

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2015-05-11T00:00:00Z

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25964309

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4491297

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Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

about

P2860

P2860

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932