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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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Detalhes bibliográficos
Main Authors: Solcà, C, Stanga, Z, Pandit, B, Diem, P, Greeve, J, Patel, SB
Formato: Artigo
Idioma:Inglês
Publicado em: 2005
Assuntos:
Acesso em linha: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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