Phenotype of Dent Disease in a Cohort of Indian Children.

about

Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China.The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report.

P2860

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P2860

Phenotype of Dent Disease in a Cohort of Indian Children.

Item

http://www.wikidata.org/entity/Q51302118

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Phenotype of Dent Disease in a Cohort of Indian Children.

@en

Phenotype of Dent Disease in a Cohort of Indian Children.

@nl

type

Item

label

Phenotype of Dent Disease in a Cohort of Indian Children.

@en

Phenotype of Dent Disease in a Cohort of Indian Children.

@nl

prefLabel

Phenotype of Dent Disease in a Cohort of Indian Children.

@en

Phenotype of Dent Disease in a Cohort of Indian Children.

@nl

P1476

Phenotype of Dent Disease in a Cohort of Indian Children.

@en

P2093

Aditi Sinha

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

Arvind Bagga

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

Cheong Hi

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

Pankaj Hari

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

Swati Bhardwaj

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

P2860

Dent Disease with mutations in OCRL1

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

Hypophosphatemic rickets due to Dent's disease: A case report and review of literature.

Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.

Dent's disease.

HYPERCALCURIC RICKETS ASSOCIATED WITH RENAL TUBULAR DAMAGE.

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations.

P2888

s13312-016-0971-4

P304

977-982

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P31

scholarly article

P356

10.1007/S13312-016-0971-4

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P433

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

P478

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

P50

Ranjeet Thergaonkar

P577

2016-11-01T00:00:00Z

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P698

27889724

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P921

India

Phenotype of Dent Disease in a Cohort of Indian Children.

about

P2860

P2860

Phenotype of Dent Disease in a Cohort of Indian Children.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P921