| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 11008582 | Journal of Clinical Lipidology | 2018 | 9 Pages |
Abstract
The study confirms the rarity of LMF1 variants in a large cohort of patients with SHTG. LMF1 variants are likely to be involved in multifactorial hyperchylomicronemia. Partial LMF1 defects could be associated with intermittent phenotype as described for p.Gly172Arg homozygous and p.Trp464Ter heterozygous carriers.
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Authors
Marine PharmD, PhD, Mathilde PharmD, PhD, Oriane PharmD, René MD, PhD, Maria Del Carmen MD, Noël MD, PhD, Cyrielle MD, PhD, Michel MD, PhD, Bruno MD, PhD, Murielle Mahl, Christophe PharmD, Philippe MD, PhD, Sybil MD, PhD,