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β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.

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Title: β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Authors: Dobritzsch, Doreen1 (AUTHOR), Meijer, Judith2 (AUTHOR), Meinsma, Rutger2 (AUTHOR), Maurer, Dirk3 (AUTHOR), Monavari, Ardeshir A.4 (AUTHOR), Gummesson, Anders5 (AUTHOR), Reims, Annika6 (AUTHOR), Cayuela, Jorge A.5 (AUTHOR), Kuklina, Natalia7 (AUTHOR), Benoist, Jean-François8 (AUTHOR), Perrin, Laurence8 (AUTHOR), Assmann, Birgit9 (AUTHOR), Hoffmann, Georg F.9 (AUTHOR), Bierau, Jörgen10,11 (AUTHOR), Kaindl, Angela M.12 (AUTHOR), van Kuilenburg, André B.P.1,2 (AUTHOR) a.b.vanKuilenburg@amsterdamumc.nl
Source: Molecular Genetics & Metabolism. Jul2022, Vol. 136 Issue 3, p177-185. 9p.
Database: Academic Search Ultimate
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Header DbId: asn
DbLabel: Academic Search Ultimate
An: 157421103
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
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  Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Metabolism%22">Molecular Genetics & Metabolism</searchLink>. Jul2022, Vol. 136 Issue 3, p177-185. 9p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=157421103
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        Value: 10.1016/j.ymgme.2022.01.102
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        Text: English
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              Text: Jul2022
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