title: A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg.
abstract: Fifty St. Petersburg patients with type IIa hyperlipoproteinemia were screened for the presence of structural rearrangements in the low-density lipoprotein receptor (LDLR) gene. One novel deletion of the length about 5 kilobases (kb) was found. This deletion seems to remove completely exons 4, 5, and 6 from the LDLR gene, coding for the largest part of the receptor ligand-binding domain.
authors.affiliation: Department of Molecular Genetics, Institute for Experimental Medicine, St. Petersburg, Russian Federation.
authors.forename: M J
authors.initials: MJ
authors.lastname: Mandelshtam
authors.forename: B M
authors.initials: BM
authors.lastname: Lipovetskyi
authors.forename: A L
authors.initials: AL
authors.lastname: Schwartzman
authors.forename: V S
authors.initials: VS
authors.lastname: Gaitskhoki
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D002648:Child; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011973:Receptors, LDL / Q000235:genetics*; D015183:Restriction Mapping; D012426:Russia / Q000453:epidemiology; D017384:Sequence Deletion
chemical_list: D011973:Receptors, LDL