[The finding of two promoter mutations (-39 and -53) among 19 FCHL patients with diminished LPL, but not among the other groups of subjects, suggests a potential role of regulatory mutations of the LPL gene in the development of dyslipidemia in FCHL.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE