Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary

Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder characterized by multiple congenital abnormalities and mental retardation. The condition is caused by the deficiency of 7-dehydrocholesterol reductase (DHCR7) which catalyzes the final step in cholesterol biosynthesis. Biochemical d...

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Autori principali: Balogh, I., Koczok, K., Szabó, G.P., Török, O., Hadzsiev, K., Csábi, G., Balogh, L., Dzsudzsák, E., Ajzner, É., Szabó, L., Csákváry, V., Oláh, A.V.
Natura: Artigo
Lingua:Inglês
Pubblicazione: S. Karger AG 2012
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Paper
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3531926/
https://ncbi.nlm.nih.gov/pubmed/23293579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000343923
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