Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia

Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene. We studied the genetic cause and clinical features of this condition in patients from the Persian population. A...

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Detalles Bibliográficos
Autores principales: Setoodeh, Aria, Haghighi, Amirreza, Saleh-Gohari, Nasrollah, Ellard, Sian, Haghighi, Alireza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier/North-Holland 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3725413/
https://www.ncbi.nlm.nih.gov/pubmed/23454484
http://dx.doi.org/10.1016/j.gene.2013.02.008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3725413/
https://www.ncbi.nlm.nih.gov/pubmed/23454484
http://dx.doi.org/10.1016/j.gene.2013.02.008

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