Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Isidora Angellotti"'
Autor:
Susan V. Smalley, Yudith Preiss, José Suazo, Javier Andrés Vega, Isidora Angellotti, Carlos F. Lagos, Enzo Rivera, Karin Kleinsteuber, Javier Campion, J. Alfredo Martínez, Alberto Maiz, José Luis Santos
Publikováno v:
Genetics and Molecular Biology, Vol 38, Iss 1, Pp 30-36 (2015)
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol
Externí odkaz:
https://doaj.org/article/8c4aa20bed8740f3b713e55ad5915b7d
Autor:
Javier Campión, José Luis Santos, Javier Andrés Vega, Alberto Maiz, Susan V. Smalley, Carlos F. Lagos, J. Alfredo Martínez, Yudith Preiss, Enzo Rivera, José Suazo, Isidora Angellotti, Karin Kleinsteuber
Publikováno v:
Genetics and Molecular Biology
Genetics and Molecular Biology v.38 n.1 2015
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 38, Iss 1, Pp 30-36 (2015)
Genetics and Molecular Biology, Volume: 38, Issue: 1, Pages: 30-36, Published: MAR 2015
Genetics and Molecular Biology v.38 n.1 2015
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Vol 38, Iss 1, Pp 30-36 (2015)
Genetics and Molecular Biology, Volume: 38, Issue: 1, Pages: 30-36, Published: MAR 2015
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c56364be2d445714a092af379411b60d
http://europepmc.org/articles/PMC4415556
http://europepmc.org/articles/PMC4415556