(Q54478247)

30 May 2018

title

In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation. (English)

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30 May 2018

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Kandai Nozu

1

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30 May 2018

Kazumoto Iijima

2

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30 May 2018

Kazuo Kawai

3

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30 May 2018

Yoshimi Nozu

4

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30 May 2018

Atsushi Nishida

5

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30 May 2018

Yasuhiro Takeshima

6

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30 May 2018

Xue Jun Fu

7

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30 May 2018

Yuya Hashimura

8

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30 May 2018

Hiroshi Kaito

9

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30 May 2018

Koichi Nakanishi

10

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30 May 2018

Norishige Yoshikawa

11

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30 May 2018

Masafumi Matsuo

12

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30 May 2018

publication date

10 June 2009

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30 May 2018

published in

Human Genetics

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30 May 2018

volume

126

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30 May 2018

issue

4

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30 May 2018

page(s)

533-538

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30 May 2018

https://scigraph.springernature.com/pub.10.1007/s00439-009-0697-7

exact match

0 references

cites work

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

1 reference

12 December 2020

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

1 reference

12 December 2020

Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe

1 reference

12 December 2020

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene

1 reference

12 December 2020

A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.

1 reference

12 December 2020

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome

1 reference

12 December 2020

Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome

1 reference

12 December 2020

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease

1 reference

12 December 2020

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease

1 reference

12 December 2020

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome

1 reference

12 December 2020

Characterization of a splicing abnormality in Gitelman syndrome

1 reference

12 December 2020

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient.

1 reference

12 December 2020

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

12 December 2020

Systematic identification and analysis of exonic splicing silencers.

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00439-009-0697-7

Identifiers

DOI

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30 May 2018

PubMed ID

19513753

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30 May 2018