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Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity

d-bifunctional protein (d-BP) deficiency is thought to lead to severe lipid metabolism disorders. To investigate the effect of naturally occurring missense mutations in the hydratase domain in d-BP, we constructed several d-BP hydratase variants and measured their activities. Missense mutations at s...

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Detalles Bibliográficos
Autores principales: Tsuchida, Shirou, Osaka, Akihiro, Abe, Yuya, Hamaue, Naoya, Aoki, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471156/
https://www.ncbi.nlm.nih.gov/pubmed/28649525
http://dx.doi.org/10.1016/j.ymgmr.2014.12.003