Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.

Wilson, D E; Emi, M; Iverius, P H; Hata, A; Wu, L L; Hillas, E; Williams, R R; Lalouel, J M

Wilson, D E; Emi, M; Iverius, P H; Hata, A; Wu, L L; Hillas, E; Williams, R R; Lalouel, J M.

Affiliation

Wilson DE; Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City 84132.

J Clin Invest ; 86(3): 735-50, 1990 Sep.

Article in En | MEDLINE | ID: mdl-2394828

Subject(s)

Lipoprotein Lipase/genetics; Adipose Tissue/enzymology; Adult; Age Factors; Aged; Base Sequence; Child; Cholesterol, HDL/metabolism; Cholesterol, LDL/metabolism; Cholesterol, VLDL/metabolism; Diabetes Complications; Discriminant Analysis; Female; Heterozygote; Humans; Lipoprotein Lipase/deficiency; Male; Middle Aged; Molecular Sequence Data; Multivariate Analysis; Mutation; Obesity/genetics; Oligonucleotides; Pedigree; Phenotype; Polymerase Chain Reaction; Regression Analysis; Sex Factors; Triglycerides/blood

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Lipoprotein Lipase Type of study: Diagnostic_studies Limits: Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: J Clin Invest Year: 1990 Type: Article

Fulltext

XML

PubMed Links

Search on Google