Publications:

Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine

Abifadel, Marianne M; Boileau, Catherine C

Publication Date: 2022-10-04

Variant appearance in text: APOB: Trp4396Tyr

PubMed Link: 36196022

Variant Present in the following documents:

• Main text
• JOIM-293-144.pdf

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New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports

Elbitar, Sandy S; Susan-Resiga, Delia D; Ghaleb, Youmna Y; El Khoury, Petra P; Peloso, Gina G; Stitziel, Nathan N; Rabès, Jean-Pierre JP; Carreau, Valérie V; Hamelin, Josée J; Ben-Djoudi-Ouadda, Ali A; Bruckert, Eric E; Boileau, Catherine C; Seidah, Nabil G NG; Varret, Mathilde M; Abifadel, Marianne M

Publication Date: 2018-01-31

Variant appearance in text: APOB: Trp4396Tyr

PubMed Link: 29386597

Variant Present in the following documents:

• Main text
• 41598_2018_Article_20281.pdf

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Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Scientific Reports

Fernández-Higuero, J A JA; Etxebarria, A A; Benito-Vicente, A A; Alves, A C AC; Arrondo, J L R JL; Ostolaza, H H; Bourbon, M M; Martin, C C

Publication Date: 2015-12-08

Variant appearance in text: APOB: Trp4396Tyr

PubMed Link: 26643808

Variant Present in the following documents:

• Main text
• srep18184.pdf

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