Cryptic exon activation in SLC12A3 in Gitelman syndrome.

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Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients

P2860

Q57492368-C3C20FD9-5BAB-4219-A77B-BFD5192C28C6

P2860

Cryptic exon activation in SLC12A3 in Gitelman syndrome.

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http://www.wikidata.org/entity/Q51360998

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年學術文章

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Cryptic exon activation in SLC12A3 in Gitelman syndrome.

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Cryptic exon activation in SLC12A3 in Gitelman syndrome.

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Cryptic exon activation in SLC12A3 in Gitelman syndrome.

@en

Cryptic exon activation in SLC12A3 in Gitelman syndrome.

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Cryptic exon activation in SLC12A3 in Gitelman syndrome.

@en

Cryptic exon activation in SLC12A3 in Gitelman syndrome.

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P1476

Cryptic exon activation in SLC12A3 in Gitelman syndrome

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P2093

Akemi Shono

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

Hiroshi Kaito

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Ichiro Morioka

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Igor Vorechovsky

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Junya Fujimura

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Kandai Nozu

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Kazumoto Iijima

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Keita Nakanishi

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

Koichi Nakanishi

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

Mariko Taniguchi-Ikeda

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P2860

Finishing the euchromatic sequence of the human genome

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.

A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome

An improved terminology and classification of Bartter-like syndromes.

Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Electrocardiogram with prolonged QT interval in Gitelman disease.

Problems in diagnosing atypical Gitelman's syndrome presenting with normomagnesaemia.

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

P2888

jhg.2016.129

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335-337

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scholarly article

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10.1038/JHG.2016.129

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

P433

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

P478

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

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Tomohiko Yamamura

Shogo Minamikawa

P577

2016-10-27T00:00:00Z

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P698

27784896

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Cryptic exon activation in SLC12A3 in Gitelman syndrome.

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P2860

P2860

Cryptic exon activation in SLC12A3 in Gitelman syndrome.

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P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698