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X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene

X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene
This is the first report of a synonymous COL4A5 substitution being responsible for XLAS. Our findings suggest that transcript analysis should be conducted for the future correct assessment of silent mutations.
1342-1751
699-702
Fu, Xue Jun
a1d4f6e2-a9ec-4e5d-b6f4-ea03801e6986
Nozu, Kandai
5b83b5a2-174f-4fc4-81aa-58f7466ea38b
Eguchi, Aya
fff6b1e1-c50b-4325-9ec4-3a76a9e5922b
Nozu, Yoshimi
3296db2f-f816-4f8c-9336-13d89e618632
Morisada, Naoya
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Shono, Akemi
5c3731cf-b7f8-47c4-ad5c-48f56236d3ec
Taniguchi-Ikeda, Mariko
b4a2ed2c-be86-4d81-b928-2915442b0015
Shima, Yuko
c2a54af1-71e9-499d-8a56-4133ccef8a28
Nakanishi, Koichi
314cded2-4bdb-4275-95c9-0c8cd73c887e
Vorechovsky, Igor
7245de2f-8c9b-4034-8935-9a451d9b682e
Iijima, Kazumoto
0025351f-84e0-429a-ba94-befdbe081d1a
Fu, Xue Jun
a1d4f6e2-a9ec-4e5d-b6f4-ea03801e6986
Nozu, Kandai
5b83b5a2-174f-4fc4-81aa-58f7466ea38b
Eguchi, Aya
fff6b1e1-c50b-4325-9ec4-3a76a9e5922b
Nozu, Yoshimi
3296db2f-f816-4f8c-9336-13d89e618632
Morisada, Naoya
409060b8-1786-4551-8bcd-88c40a237147
Shono, Akemi
5c3731cf-b7f8-47c4-ad5c-48f56236d3ec
Taniguchi-Ikeda, Mariko
b4a2ed2c-be86-4d81-b928-2915442b0015
Shima, Yuko
c2a54af1-71e9-499d-8a56-4133ccef8a28
Nakanishi, Koichi
314cded2-4bdb-4275-95c9-0c8cd73c887e
Vorechovsky, Igor
7245de2f-8c9b-4034-8935-9a451d9b682e
Iijima, Kazumoto
0025351f-84e0-429a-ba94-befdbe081d1a

Fu, Xue Jun, Nozu, Kandai, Eguchi, Aya, Nozu, Yoshimi, Morisada, Naoya, Shono, Akemi, Taniguchi-Ikeda, Mariko, Shima, Yuko, Nakanishi, Koichi, Vorechovsky, Igor and Iijima, Kazumoto (2016) X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene. Clinical and Experimental Nephrology, 20 (5), 699-702. (doi:10.1007/s10157-015-1197-9). (PMID:26581810)

Record type: Article

Abstract

This is the first report of a synonymous COL4A5 substitution being responsible for XLAS. Our findings suggest that transcript analysis should be conducted for the future correct assessment of silent mutations.

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More information

Accepted/In Press date: 10 November 2015
e-pub ahead of print date: 18 November 2015
Published date: October 2016
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 384443
URI: http://eprints.soton.ac.uk/id/eprint/384443
ISSN: 1342-1751
PURE UUID: aa167507-8d8a-4e1f-8bab-83965aeefff8

Catalogue record

Date deposited: 21 Dec 2015 14:35
Last modified: 15 Jul 2019 20:56

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Contributors

Author: Xue Jun Fu
Author: Kandai Nozu
Author: Aya Eguchi
Author: Yoshimi Nozu
Author: Naoya Morisada
Author: Akemi Shono
Author: Mariko Taniguchi-Ikeda
Author: Yuko Shima
Author: Koichi Nakanishi
Author: Kazumoto Iijima

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