MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution

Mutations in the MMADHC gene cause cobalamin D disorder (cblD), an autosomal recessive inborn disease with defects in intracellular cobalamin (cbl, vitamin B12) metabolism. CblD patients present methylmalonic aciduria (MMA), homocystinuria (HC), or combined MMA/HC, and usually suffer developmental d...

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Detalles Bibliográficos
Autores principales: Torices, Leire, de las Heras, Javier, Arango-Lasprilla, Juan Carlos, Cortés, Jesús M., Nunes-Xavier, Caroline E., Pulido, Rafael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847965/
https://www.ncbi.nlm.nih.gov/pubmed/33552904
http://dx.doi.org/10.1016/j.ymgmr.2021.100710

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847965/
https://www.ncbi.nlm.nih.gov/pubmed/33552904
http://dx.doi.org/10.1016/j.ymgmr.2021.100710

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