Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits. (Q52790259)

http://europepmc.org/abstract/MED/29131116

7 May 2018

title

Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits. (English)

1 reference

http://europepmc.org/abstract/MED/29131116

7 May 2018

author

Shogo Minamikawa

7

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8 June 2020

Mariko Taniguchi-Ikeda

14

object named as

Mariko Taniguchi-Ikeda

1 reference

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8 June 2020

13

Ichiro Morioka

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8 June 2020

author name string

Yurika Tsuji

1

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8 June 2020

Kandai Nozu

2

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8 June 2020

Tadashi Sofue

3

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8 June 2020

Shigeo Hara

4

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8 June 2020

Keita Nakanishi

5

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8 June 2020

Tomohiko Yamamura

6

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8 June 2020

Yoshimi Nozu

8

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8 June 2020

Hiroshi Kaito

9

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8 June 2020

Junya Fujimura

10

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8 June 2020

Tomoko Horinouchi

11

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8 June 2020

Naoya Morisada

12

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8 June 2020

Masafumi Matsuo

15

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8 June 2020

Kazumoto Iijima

16

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8 June 2020

publication date

3 November 2017

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http://europepmc.org/abstract/MED/29131116

7 May 2018

published in

The Nephron Journals

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8 June 2020

volume

138

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8 June 2020

page(s)

166-171

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8 June 2020

issue

2

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Mutations in FN1 cause glomerulopathy with fibronectin deposits.

8 June 2020

cites work

1 reference

Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits.

21 January 2018

1 reference

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

21 January 2018

1 reference

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.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1159/000484209

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29131116%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

1 reference