Novel compound heterozygous mutations for lipoprotein lipase deficiency: a G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5′ splice site mutation of intron 8

Novel compound heterozygous mutations for lipoprotein lipase deficiency: a G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5′ splice site mutation of intron 8

We systematically investigated the molecular defects causing a primary LPL deficiency in a Japanese male infant (patient DI) with fasting hyperchylomicronemia (type I hyperlipoproteinemia) and in his parents. Patient DI had neither LPL activity nor immunoreactive LPL mass in the pre- and post-hepari...

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Bibliographic Details
Main Authors: Yasuyuki Ikeda, Atsuko Takagi, Yuusei Nakata, Yasuhiko Sera, Sumio Hyoudou, Kazuko Hamamoto, Yoshikazu Nishi, Akira Yamamoto
Format: Article
Language:English
Published: Elsevier 2001-07-01
Series:Journal of Lipid Research
Subjects:
LPL gene mutation
hypertriglyceridemia
first nucleotide
first base
acceptor splice site
donor splice site
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520315960

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http://www.sciencedirect.com/science/article/pii/S0022227520315960

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