Involvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia-Reference-Cited by-同舟云学术

Involvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia

Published:2020-11 Issue:6 Volume:14 Page:756-761
ISSN:1933-2874
Container-title:Journal of Clinical Lipidology
language:en
Short-container-title:Journal of Clinical Lipidology

Author:

Serveaux Dancer Marine,Marmontel Oriane^ORCID,Wozny Anne-Sophie^ORCID,Marcais Christophe,Mahl Muriel,Dumont Sabrina,Simonet Thomas,Moulin Philippe^ORCID,Di Filippo Mathilde,Charrière Sybil

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference20 articles.

1. Severe hypertriglyceridemia is primarily polygenic;Dron;J Clin Lipidol,2019

2. Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism;Péterfy;Biochim Biophys Acta,2012

3. Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia;Péterfy;Nat Genet,2007

4. Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia;Cefalù;J Clin Endocrinol Metab,2009

5. Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing;Cefalù;J Clin Lipidol,2017

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1. Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia – Case Report and Literature Review;Journal of Atherosclerosis and Thrombosis;2024-07-01

2. Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene;BMC Endocrine Disorders;2024-04-15

3. A novel homozygous nonsense variant of LMF1 in pregnancy-induced hypertriglyceridemia with acute pancreatitis;Journal of Clinical Lipidology;2023-05

4. Clinical features and functions of a novel Lpl mutation C.986A>C (p.Y329S) in patient with hypertriglyceridemia;Current Research in Translational Medicine;2022-09

5. Severe hypertriglyceridemia secondary to splice-site and missense variants in LMF1 in three patients from Ecuador;Journal of Clinical Lipidology;2022-05