title: A new variant of apolipoprotein E (apo E Maebashi) in lipoprotein glomerulopathy.
abstract: We have previously reported an 8-year-old girl with lipoprotein glomerulopathy. Assessment of serum apolipoprotein E (apo E) in this patient showed a discrepancy between phenotype and genotype, suggesting that she may have a variant of apo E. The present report concerns our analysis of DNA sequences of the apo E gene in the patient: nine base pairs were found to be deleted from exon 4. This mutation would appear to encode a new apo E variant lacking three amino acids. This variant may be associated with the pathogenesis of lipoprotein glomerulopathy.
authors.affiliation: Department of Pediatrics, Gunma University School of Medicine, 3-39-22 Showa-machi, Maebashi, Gunma, 371-8511 Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ogawa
authors.forename: K
authors.initials: K
authors.lastname: Maruyama
authors.forename: H
authors.initials: H
authors.lastname: Hattori
authors.forename: H
authors.initials: H
authors.lastname: Arai
authors.forename: I
authors.initials: I
authors.lastname: Kondoh
authors.forename: T
authors.initials: T
authors.lastname: Egashira
authors.forename: T
authors.initials: T
authors.lastname: Watanabe
authors.forename: Y
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: A
authors.initials: A
authors.lastname: Morikawa
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics* / Q000378:metabolism; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics* / Q000378:metabolism; D008297:Male; D010641:Phenotype; D017422:Sequence Analysis, DNA
chemical_list: D001057:Apolipoproteins E