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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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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier/North-Holland
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3725413/ https://ncbi.nlm.nih.gov/pubmed/23454484 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2013.02.008 |
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