Abnormal chondrocyte intercalation in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant

Variants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. cblC is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients,...

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Detalles Bibliográficos
Autores principales: Paz, David, Pinales, Briana E., Castellanos, Barbara S., Perez, Isaiah, Gil, Claudia B., Madrigal, Lourdes Jimenez, Reyes-Nava, Nayeli G., Castro, Victoria L., Sloan, Jennifer L., Quintana, Anita M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9882310/
https://www.ncbi.nlm.nih.gov/pubmed/36711998
http://dx.doi.org/10.1101/2023.01.20.524982

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9882310/
https://www.ncbi.nlm.nih.gov/pubmed/36711998
http://dx.doi.org/10.1101/2023.01.20.524982

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