Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients.
M
M
Okubo
S
S
Inoue
A
A
Horinishi
T
T
Ogihara
K
K
Kaneko
T
T
Gotoda
N
N
Yamada
T
T
Murase
D000328:Adult; D001483:Base Sequence; D002784:Cholesterol / Q000097:blood; D002872:Chromosome Deletion; D005260:Female; D018703:Founder Effect; D006580:Genetic Carrier Screening; D006239:Haplotypes; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000201:enzymology / Q000235:genetics*; D007223:Infant; D007564:Japan; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics*; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014280:Triglycerides / Q000097:blood
D014280:Triglycerides; D002784:Cholesterol; D008071:Lipoprotein Lipase