eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ataxia with isolated vitamin e deficiency |
| Comorbidity | C0042875|vitamin e deficiency |
| Sentences | 1 |
| PubMedID- 21729881 | The association between the autosomal recessive neurodegenerative disease, aved (ataxia with isolated vitamin e deficiency) and mutations in the gene, ttpa, on chromosome 8q13 encoding the alpha-tocopherol transfer protein (14), has been established. |
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