A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency.

doi:10.1016/s0925-4439(00)00067-3

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Article

A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency.

Biochimica et biophysica acta - 15 Nov 2000

Takagi A, Ikeda Y, Takeda E, Yamamoto A

Abstract excerpt

We have systematically investigated the molecular defects resulting in a primary lipoprotein lipase (LPL) deficiency in a Japanese male infant (proband SH) with fasting hyperchylomicronemia. Neither LPL activity nor immunoreactive LPL mass was detected in pre- or postheparin plasma from proband SH. DNA sequence analysis of the LPL gene of proband SH revealed homozygosity for a novel missense mutation of F270L...

Topics

Alleles
Animals
COS Cells
Heterozygote
Humans
Hyperlipoproteinemias
Immunohistochemistry
Infant, Newborn
Lipase
Lipoprotein Lipase
Liver
Male
Mutation, Missense
Pedigree
Restriction Mapping
Transfection

Source

Open in PubMed

Identifiers

PMID: 11068186
DOI: 10.1016/s0925-4439(00)00067-3

Genes

Variants

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