Literature DB >> 205980

Familial hypobeta-lipoproteinemia: studies in 13 kindreds.

C J Glueck, P S Gartside, M J Mellies, P M Steiner.   

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Year:  1977        PMID： 205980

Source DB:  PubMed          Journal:  Trans Assoc Am Physicians        ISSN： 0066-9458


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  6 in total

1.  Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan.

Authors:  Bard J Geesaman; Erica Benson; Stephanie J Brewster; Louis M Kunkel; Hélène Blanché; Gilles Thomas; Thomas T Perls; Mark J Daly; Annibale A Puca
Journal:  Proc Natl Acad Sci U S A       Date:  2003-11-13       Impact factor: 11.205

2.  Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.

Authors:  S G Young; S T Hubl; R S Smith; S M Snyder; J F Terdiman
Journal:  J Clin Invest       Date:  1990-03       Impact factor: 14.808

3.  A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.

Authors:  F K Welty; S T Hubl; V R Pierotti; S G Young
Journal:  J Clin Invest       Date:  1991-05       Impact factor: 14.808

4.  Genetic analysis of a kindred with familial hypobetalipoproteinemia. Evidence for two separate gene defects: one associated with an abnormal apolipoprotein B species, apolipoprotein B-37; and a second associated with low plasma concentrations of apolipoprotein B-100.

Authors:  S G Young; S J Bertics; L K Curtiss; B W Dubois; J L Witztum
Journal:  J Clin Invest       Date:  1987-06       Impact factor: 14.808

Review 5.  Inhibition of hepatic microsomal triglyceride transfer protein - a novel therapeutic option for treatment of homozygous familial hypercholesterolemia.

Authors:  Alpo Vuorio; Matti J Tikkanen; Petri T Kovanen
Journal:  Vasc Health Risk Manag       Date:  2014-05-06

6.  Exon skipping of hepatic APOB pre-mRNA with splice-switching oligonucleotides reduces LDL cholesterol in vivo.

Authors:  Petra Disterer; Raya Al-Shawi; Stephan Ellmerich; Simon N Waddington; James S Owen; J Paul Simons; Bernard Khoo
Journal:  Mol Ther       Date:  2013-01-15       Impact factor: 11.454
  6 in total

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