Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity

Understanding the role of common polymorphisms in modulating the clinical phenotype when they co‐occur with a disease‐causing lesion is of critical importance in medical genetics. We explored the impact of apparently neutral common polymorphisms, using the gene encoding the urea cycle enzyme, ornith...

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Detalles Bibliográficos
Autores principales: Lopes‐Marques, Mónica, Pacheco, Ana Rita, Peixoto, Maria João, Cardoso, Ana Rita, Serrano, Catarina, Amorim, António, Prata, Maria João, Cooper, David N., Azevedo, Luísa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362079/
https://www.ncbi.nlm.nih.gov/pubmed/34015158
http://dx.doi.org/10.1002/humu.24221

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362079/
https://www.ncbi.nlm.nih.gov/pubmed/34015158
http://dx.doi.org/10.1002/humu.24221

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