Results 71 to 80 of about 3,582 (133)

Rare variants in cholesterol transporter genes in patients with lipid metabolism disorders. [PDF]

open access: yesVavilovskii Zhurnal Genet Selektsii
Izyumchenko AD   +10 more
europepmc   +1 more source

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia. [PDF]

open access: yesJ Atheroscler Thromb
Okada T   +12 more
europepmc   +1 more source

Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia. [PDF]

open access: yesSci Rep
Abraham N   +11 more
europepmc   +1 more source

Whole exome sequencing identifies concurrent <i>LDLR</i> and <i>ABCG8</i> mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia. [PDF]

open access: yesFront Genet
Hummadi A   +12 more
europepmc   +1 more source

Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report. [PDF]

open access: yesJ Med Case Rep
Wu LL   +7 more
europepmc   +1 more source

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