β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity-Reference-Cited by-同舟云学术

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

Published:2022-07 Issue:3 Volume:136 Page:177-185
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Dobritzsch Doreen,Meijer Judith,Meinsma Rutger,Maurer Dirk,Monavari Ardeshir A.,Gummesson Anders,Reims Annika,Cayuela Jorge A.,Kuklina Natalia,Benoist Jean-François,Perrin Laurence,Assmann Birgit,Hoffmann Georg F.,Bierau Jörgen,Kaindl Angela M.,van Kuilenburg André B.P.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

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