Výsledky vyhledávání - "Kostas Mitropoulos"

Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy

Autor: France Mailly, Jutta Palmen, David P.R. Muller, Tracy Gibbs, June Lloyd, John Brunzell, Paul Durrington, Kostas Mitropoulos, John Betteridge, Gerald Watts, Hans Lithell, Franco Angelico, Steve E. Humphries, Philippa J. Talmud

Publikováno v: Human mutation. 10(6)

The aim of this study was to identify mutations in the lipoprotein lipase (LPL) gene in 20 unrelated patients with familial lipoprotein deficiency (FLLD) and to investigate the genotype/phenotype relationship. The previously reported G188E mutation (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4f32b593f22dab7311190f4aabc3ed7
https://pubmed.ncbi.nlm.nih.gov/9401010

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání