title: SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia.
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital; University of Western Australia, Perth, Australia.
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Hooper
authors.affiliation: Department of Internal Medicine, Division of Endocrinology and Metabolism, University of Dokuz Eylul, Izmir, Turkey.
authors.forename: Baris
authors.initials: B
authors.lastname: Akinci
authors.affiliation: Neurogenetics Laboratory, Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Perth Australia.
authors.forename: Mark R
authors.initials: MR
authors.lastname: Davis
authors.affiliation: Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital; University of Western Australia, Perth, Australia. Electronic address: john.burnett@health.wa.gov.au.
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
mesh_terms: D003241:Consanguinity; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D018991:Myelin Proteolipid Protein / Q000235:genetics; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D015419:Spastic Paraplegia, Hereditary / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D014421:Turkey
chemical_list: D018991:Myelin Proteolipid Protein; C472930:PLP1 protein, human; D011506:Proteins; C520412:SPG11 protein, human