Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)).
Clinical genetics | 2000-02-01 | PMID 10735636
Bertolini S, Simone M L, Pes G M and 6 more
Genes: LPL
