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Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots

Sitosterolaemia is a rare autosomal recessive disease characterized by increased intestinal absorption of plant sterols, decreased hepatic excretion into bile and elevated concentrations in plasma phytosterols. Homozygous or compound heterozygous loss of function mutations in either of the ATP-bindi...

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Autori principali: Solcà, C, Stanga, Z, Pandit, B, Diem, P, Greeve, J, Patel, SB
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2005
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1201539/
https://ncbi.nlm.nih.gov/pubmed/15996216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2005.00472.x
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