Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report

BACKGROUND: Transcobalamin (TC) transports vitamin B12 from blood into cells. TC II deficiency is a rare autosomal recessive disorder. It is characterized by failure to thrive, diarrhoea, pallor, anaemia, pancytopenia or agammaglobulinemia. It is usually confirmed by molecular analysis of the TCN2 g...

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Detalles Bibliográficos
Autores principales: Zhan, Shihong, Cheng, Fangfang, He, Hailong, Hu, Shaoyan, Feng, Xing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7537950/
https://www.ncbi.nlm.nih.gov/pubmed/33023511
http://dx.doi.org/10.1186/s12887-020-02357-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7537950/
https://www.ncbi.nlm.nih.gov/pubmed/33023511
http://dx.doi.org/10.1186/s12887-020-02357-6

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