title: A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.
abstract: In a Japanese patient with familial LPL deficiency, a new null allelic mutation, one base pair deletion at nucleotide position 916 was identified in exon 5 of one allele. In exon 3 of the other allele, we found the same nonsense mutation as we described previously in other Japanese kindreds. For the deletional mutant allele, we developed a simple detection method and constructed the DNA haplotype.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Gotoda
authors.forename: N
authors.initials: N
authors.lastname: Yamada
authors.forename: T
authors.initials: T
authors.lastname: Murase
authors.forename: S
authors.initials: S
authors.lastname: Miyake
authors.forename: R
authors.initials: R
authors.lastname: Murakami
authors.forename: M
authors.initials: M
authors.lastname: Kawamura
authors.forename: K
authors.initials: K
authors.lastname: Kozaki
authors.forename: N
authors.initials: N
authors.lastname: Mori
authors.forename: H
authors.initials: H
authors.lastname: Shimano
authors.forename: M
authors.initials: M
authors.lastname: Shimada
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005260:Female; D006579:Heterozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000201:enzymology* / Q000235:genetics; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction
chemical_list: D008071:Lipoprotein Lipase