Translational read-through of a nonsense mutation causing Bartter syndrome.

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ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

P2860

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P2860

Translational read-through of a nonsense mutation causing Bartter syndrome.

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http://www.wikidata.org/entity/Q36917134

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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Translational read-through of a nonsense mutation causing Bartter syndrome.

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label

Translational read-through of a nonsense mutation causing Bartter syndrome.

@en

prefLabel

Translational read-through of a nonsense mutation causing Bartter syndrome.

@en

P1476

Translational read-through of a nonsense mutation causing Bartter syndrome.

@en

P2093

Beom Hee Lee

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

Hae Il Cheong

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

Hee Yeon Cho

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P2860

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome

Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations

Correction of genetic disease by making sense from nonsense.

Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers.

Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations.

Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin.

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821-826

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scholarly article

P356

10.3346/JKMS.2013.28.6.821

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P433

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

P478

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

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2013-06-03T00:00:00Z

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239943229

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P698

23772144

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P932

3677996

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

Translational read-through of a nonsense mutation causing Bartter syndrome.

about

P2860

P2860

Translational read-through of a nonsense mutation causing Bartter syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932