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Mutations in the 3β-Hydroxysterol Δ(24)-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies. Patients with desmosterolosis have elevated levels of the cholesterol precursor desmosterol, in plasma, tissue, and cultured cells; this abnormality suggests a deficiency of the enzyme 3β-hydroxyst...

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Библиографические подробности
Главные авторы: Waterham, Hans R., Koster, Janet, Romeijn, Gerrit Jan, Hennekam, Raoul C.M., Vreken, Peter, Andersson, Hans C., FitzPatrick, David R., Kelley, Richard. I., Wanders, Ronald J. A.
Формат: Artigo
Язык:Inglês
Опубликовано: The American Society of Human Genetics 2001
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226055/
https://ncbi.nlm.nih.gov/pubmed/11519011
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