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Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency.

BACKGROUND: The mouse strain sparse fur with abnormal skin and hair (spf(ash)) is a model for the human ornithine transcarbamylase (OTC) deficiency, an X-linked inherited urea cycle disorder. The spf(ash) mouse carries a single base-pair mutation in the OTC gene that leads to the production of OTC e...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Zimmer, K. P., Bendiks, M., Mori, M., Kominami, E., Robinson, M. B., Ye, X., Wilson, J. M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Feinstein Institute for Medical Research 1999
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2230322/
https://ncbi.nlm.nih.gov/pubmed/10448647
Tagiau: Ychwanegu Tag
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