Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up.
2016
To the editor:
Mutations in the tetratricopeptide repeat domain 7A ( TTC7A) gene cause a severe form of very early onset inflammatory bowel disease (VEOIBD).[1][1] TTC7A has a crucial role in chaperoning the enzyme phosphatidylinositol-4-kinase-3-α from the trans-Golgi apparatus to the plasma
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