title: Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia.
authors.forename: A
authors.initials: A
authors.lastname: Aminoff
authors.forename: E
authors.initials: E
authors.lastname: Gunnar
authors.forename: M
authors.initials: M
authors.lastname: Barbaro
authors.forename: M N
authors.initials: MN
authors.lastname: Mannila
authors.forename: C
authors.initials: C
authors.lastname: Duponchel
authors.forename: M
authors.initials: M
authors.lastname: Tosi
authors.forename: K L
authors.initials: KL
authors.lastname: Robinson
authors.forename: O
authors.initials: O
authors.lastname: Hernell
authors.forename: E
authors.initials: E
authors.lastname: Ehrenborg
mesh_terms: D000012:Abetalipoproteinemia / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4; D006801:Humans; D007223:Infant; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D011487:Protein Conformation; D024182:Uniparental Disomy
chemical_list: D002352:Carrier Proteins; C106092:microsomal triglyceride transfer protein