Publications:

Lomitapide does not alter PCSK9 and Lp(a) levels in homozygous familial hypercholesterolemia patients: Analysis on cytokines and lipid profile.

Atherosclerosis Plus

Lupo, Maria Giovanna MG; Arcidiacono, Diletta D; Zaramella, Alice A; Fimiani, Fabio F; Calabrò, Paolo P; Cefalù, Angelo Baldassare AB; Averna, Maurizio M; D'Erasmo, Laura L; Arca, Marcello M; De Martin, Sara S; Zambon, Alberto A; Ferri, Nicola N

Publication Date: 2021-09

Variant appearance in text: LDLR: 432insA

PubMed Link: 36644506

Variant Present in the following documents:

• Main text
• main.pdf

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Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics

Futema, Marta M; Plagnol, Vincent V; Li, KaWah K; Whittall, Ros A RA; Neil, H Andrew W HA; Seed, Mary M; , ; Bertolini, Stefano S; Calandra, Sebastiano S; Descamps, Olivier S OS; Graham, Colin A CA; Hegele, Robert A RA; Karpe, Fredrik F; Durst, Ronen R; Leitersdorf, Eran E; Lench, Nicholas N; Nair, Devaki R DR; Soran, Handrean H; Van Bockxmeer, Frank M FM; , ; Humphries, Steve E SE

Publication Date: 2014-08

Variant appearance in text: LDLR: 432_433insA

PubMed Link: 24987033

Variant Present in the following documents:

• Main text
• jmedgenet-2014-102405.pdf

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Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics

Futema, Marta M; Plagnol, Vincent V; Whittall, Ros A RA; Neil, H Andrew W HA; , ; Humphries, Steve Eric SE; ,

Publication Date: 2012-10

Variant appearance in text: LDLR: 432_433insA

PubMed Link: 23054246

Variant Present in the following documents:

• Main text

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