Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts

BACKGROUND: Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans. The aetiology is heterogeneous and remains unexplained in approximately 75% of patients. OBJECTIVE: To examine cholesterol biosynthesis in lymphoblastoid cell lines of 228 patients w...

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Autors principals: Haas, D, Morgenthaler, J, Lacbawan, F, Long, B, Runz, H, Garbade, S F, Zschocke, J, Kelley, R I, Okun, J G, Hoffmann, G F, Muenke, M
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2007
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597992/
https://ncbi.nlm.nih.gov/pubmed/17237122
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.047258
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