Načítá se...
Ataxia caused by mutations in the α-tocopherol transfer protein gene
A 48 year old woman with ataxia with vitamin E deficiency is described. Gene analysis identified two point mutations in exon 1 of the α-tocopherol transfer protein (α-TTP) gene, one missense mutation and an upstream initiation codon mutation in the 5'-untranslated region (Kozak sequence). The l...
Uloženo v:
| Hlavní autoři: | , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMJ Group
2000
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1737064/ https://ncbi.nlm.nih.gov/pubmed/10896705 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.69.2.254 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|