Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency

Transcobalamin (TC) deficiency is a rare autosomal recessive disease characterized by megaloblastic anemia. It is caused by cellular vitamin B12 depletion, which subsequently results in elevated levels of homocysteine and methylmalonic acid. This disease is usually diagnosed by genetic analysis of t...

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Detalles Bibliográficos
Autores principales: Luo, Juan, Guo, Hongxi, Feng, Lifang, Yang, Luhong, Chen, Xiaoqian, Du, Tingting, Hu, Man, Yao, Hui, Chen, Xiaohong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411981/
https://www.ncbi.nlm.nih.gov/pubmed/36035190
http://dx.doi.org/10.3389/fgene.2022.951007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411981/
https://www.ncbi.nlm.nih.gov/pubmed/36035190
http://dx.doi.org/10.3389/fgene.2022.951007

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