Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay
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Author / Creator
Horinouchi, Tomoko , Nozu, Kandai , Yamamura, Tomohiko , Minamikawa, Shogo , Nagano, China , Sakakibara, Nana , Nakanishi, Koichi , Shima, Yuko , Morisada, Naoya , Ishiko, Shinya , Aoto, Yuya , Nagase, Hiroaki , Takeda, Hiroki , Rossanti, Rini , Kaito, Hiroshi , Matsuo, Masafumi and Iijima, Kazumoto
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in
COL4A5
. In XLAS cases suspected of being caused by aberrant splicing, transcript analysis needs to be conducted to determine splicing patterns and assess the pathogenicity. However, such analysis is not always available. We conducted a functional splicing as...
Alternative Titles
Full title
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6722096
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6722096
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-019-48990-9
