A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II

Autor: Ss, Fojo, Af, Stalenhoef, Marr K, Re, Gregg, Robert Ross, Hb, Brewer

Publikováno v: Europe PubMed Central

The apolipoprotein C-II gene from a patient with a deficiency of apoC-II was cloned and sequenced. A single base deletion of a guanosine at position 2943 in exon three of the gene of the proband was identified by sequence analysis. This point mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3538371a7ecd1f14e26a75f66228bf03
http://europepmc.org/abstract/med/3192518

Absence of triglyceride accumulation in lipoprotein lipase-deficient human monocyte-macrophages incubated with human very low density lipoprotein.

Autor: Skarlatos SI; Section of Experimental Atherosclerosis, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892., Dichek HL, Fojo SS, Brewer HB, Kruth HS

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 1993 Mar; Vol. 76 (3), pp. 793-6.

The molecular defects in lipoprotein lipase deficient patients.

Autor: Fojo SS; Molecular Disease Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892., Beg O, Dichek H, Brewer HB Jr

Publikováno v: European journal of epidemiology [Eur J Epidemiol] 1992 May; Vol. 8 Suppl 1, pp. 59-63.

Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.

Autor: Dichek HL; Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892., Fojo SS, Beg OU, Skarlatos SI, Brunzell JD, Cutler GB Jr, Brewer HB Jr

Publikováno v: The Journal of biological chemistry [J Biol Chem] 1991 Jan 05; Vol. 266 (1), pp. 473-7.

Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity.

Autor: Beg OU; Molecular Disease Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892., Meng MS, Skarlatos SI, Previato L, Brunzell JD, Brewer HB Jr, Fojo SS

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 1990 May; Vol. 87 (9), pp. 3474-8.