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A novel splice site mutation in OTC gene of a female with ornithine transcarbamylase deficiency and her asymptomatic mosaic father

Crossref DOI link: https://doi.org/10.1007/s12041-020-1189-8

Published Online: 2020-04-10

Published Print: 2020-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Olga, Shchagina https://orcid.org/0000-0003-4905-1303
Natalia, Semenova https://orcid.org/0000-0001-7041-045X
Igor, Bychkov https://orcid.org/0000-0002-9275-5210
Alena, Chukhrova https://orcid.org/0000-0002-5474-4713
Ekaterina, Zakharova https://orcid.org/0000-0002-3580-1671
Oksana, Ryzhkova https://orcid.org/0000-0003-1285-9093
Zhanna, Markova https://orcid.org/0000-0003-2941-2861
Nadezhda, Shilova

Aleksander, Poliakov https://orcid.org/0000-0002-0105-1833
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Text and Data Mining valid from 2020-04-10

Version of Record valid from 2020-04-10
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Article History

Received: 15 November 2019

Revised: 10 January 2020

Accepted: 14 January 2020

First Online: 10 April 2020