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Article

Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency.

Annals of laboratory medicine - 1 Jul 2017

Colima Fausto Ana Gabriela, González García Juan Ramón, Hernández Flores Teresita De Jesús, Vázquez Cárdenas Norma Alejandra, Solís Perales Nery Eduardo, Magaña Torres María Teresa

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 28445021
DOI: 10.3343/alm.2017.37.4.355
PMCID: PMC5409016

Genes

LPL

Variants

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency.PMID 28445021Read ↗

Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6Semantic proximity Read ↗

Identification of compound heterozygous mutations (G188E/W382X) of lipoprotein lipase gene in a Japanese infant with hyperchylomicronemia: the G188E mutation was newly identified in Japanese.Semantic proximity Read ↗

A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.Semantic proximity Read ↗

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.Semantic proximity Read ↗

A novel amino acid substitution (His183-->Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state.Semantic proximity Read ↗

Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations.Semantic proximity Read ↗

A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.Semantic proximity Read ↗

Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.Semantic proximity Read ↗

A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity.Semantic proximity Read ↗

Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review.Semantic proximity Read ↗

A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia.Semantic proximity Read ↗

Homozygosity for a mutation in the lipoprotein lipase gene (Gly139-->Ser) causes chylomicronaemia in a boy of Spanish descent.Semantic proximity Read ↗

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