Publications:

Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.

Journal Of Atherosclerosis And Thrombosis

Harada-Shiba, Mariko M; Ako, Junya J; Hirayama, Atsushi A; Nakamura, Masato M; Nohara, Atsushi A; Sato, Kayoko K; Murakami, Yoshitaka Y; Koshida, Ryusuke R; Ozaki, Asuka A; Arai, Hidenori H

Publication Date: 2022-08-01

Variant appearance in text: LDLR: A612S

PubMed Link: 34526433

Variant Present in the following documents:

• jat-29-1201.pdf

View BVdb publication page

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports

Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C

Publication Date: 2020-02-03

Variant appearance in text: LDLR: 1834G>T; Ala612Ser

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

View BVdb publication page

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental

Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE

Publication Date: 2016-03

Variant appearance in text: LDLR: Ala612Ser

PubMed Link: 26892515

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page