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2. Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. Magnolo L; Najah M; Fancello T; Di Leo E; Pinotti E; Brini I; Gueddiche NM; Calandra S; Slimene NM; Tarugi P Gene; 2013 Jan; 512(1):28-34. PubMed ID: 23043934 [TBL] [Abstract][Full Text] [Related]
3. Hypobetalipoproteinemia and abetalipoproteinemia. Welty FK Curr Opin Lipidol; 2014 Jun; 25(3):161-8. PubMed ID: 24751931 [TBL] [Abstract][Full Text] [Related]
4. Comparison of two polygenic risk scores to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects. Cefalù AB; Spina R; Noto D; Rabacchi C; Giammanco A; Simone ML; Brucato F; Scrimali C; Gueli-Alletti MG; Barbagallo CM; Tarugi P; Averna MR J Clin Lipidol; 2022; 16(4):530-537. PubMed ID: 35589500 [TBL] [Abstract][Full Text] [Related]
5. Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene. Martín-Morales R; García-Díaz JD; Tarugi P; González-Santos P; Saavedra-Vallejo P; Magnolo L; Mesa-Latorre JM; di Leo E; Valdivielso P Gene; 2013 Nov; 531(1):92-6. PubMed ID: 24001780 [TBL] [Abstract][Full Text] [Related]
7. A case of hypocholesterolemia under study. Camacho A; Ariza MJ; Amigó N; Macías Guillén P; Sánchez Chaparro MÁ; Valdivielso P Clin Investig Arterioscler; 2023; 35(5):244-247. PubMed ID: 37302939 [TBL] [Abstract][Full Text] [Related]
8. Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients. Blanco-Vaca F; Martin-Campos JM; Beteta-Vicente Á; Canyelles M; Martínez S; Roig R; Farré N; Julve J; Tondo M Atherosclerosis; 2019 Apr; 283():52-60. PubMed ID: 30782561 [TBL] [Abstract][Full Text] [Related]
9. Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level. Ross RS; Gregg RE; Law SW; Monge JC; Grant SM; Higuchi K; Triche TJ; Jefferson J; Brewer HB J Clin Invest; 1988 Feb; 81(2):590-5. PubMed ID: 2828430 [TBL] [Abstract][Full Text] [Related]
10. Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation. Martín-Campos JM; Roig R; Mayoral C; Martinez S; Martí G; Arroyo JA; Julve J; Blanco-Vaca F Clin Chim Acta; 2012 Mar; 413(5-6):552-5. PubMed ID: 22155345 [TBL] [Abstract][Full Text] [Related]
11. Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. Di Costanzo A; Di Leo E; Noto D; Cefalù AB; Minicocci I; Polito L; D'Erasmo L; Cantisani V; Spina R; Tarugi P; Averna M; Arca M J Clin Lipidol; 2017; 11(5):1234-1242. PubMed ID: 28733173 [TBL] [Abstract][Full Text] [Related]
14. Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia. Rimbert A; Pichelin M; Lecointe S; Marrec M; Le Scouarnec S; Barrak E; Croyal M; Krempf M; Le Marec H; Redon R; Schott JJ; Magré J; Cariou B Atherosclerosis; 2016 Jul; 250():52-6. PubMed ID: 27179706 [TBL] [Abstract][Full Text] [Related]
15. Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins. Young SG; Hubl ST; Smith RS; Snyder SM; Terdiman JF J Clin Invest; 1990 Mar; 85(3):933-42. PubMed ID: 2312735 [TBL] [Abstract][Full Text] [Related]
16. Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization. Minicocci I; Montali A; Robciuc MR; Quagliarini F; Censi V; Labbadia G; Gabiati C; Pigna G; Sepe ML; Pannozzo F; Lütjohann D; Fazio S; Jauhiainen M; Ehnholm C; Arca M J Clin Endocrinol Metab; 2012 Jul; 97(7):E1266-75. PubMed ID: 22659251 [TBL] [Abstract][Full Text] [Related]
17. Homozygous hypobetalipoproteinemia: transcriptional regulation and 5'-flanking sequence analysis in an apolipoprotein B deficiency state. Ross RS; Hoeg JM; Higuchi K; Schumacher UK; Fojo S; Gregg RE; Brewer HB Biochim Biophys Acta; 1989 Jul; 1004(1):29-35. PubMed ID: 2742871 [TBL] [Abstract][Full Text] [Related]
18. Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3. Pisciotta L; Favari E; Magnolo L; Simonelli S; Adorni MP; Sallo R; Fancello T; Zavaroni I; Ardigò D; Bernini F; Calabresi L; Franceschini G; Tarugi P; Calandra S; Bertolini S Circ Cardiovasc Genet; 2012 Feb; 5(1):42-50. PubMed ID: 22062970 [TBL] [Abstract][Full Text] [Related]
19. Familial hypobetalipoproteinemia associated with a mutant species of apolipoprotein B (B-46). Young SG; Hubl ST; Chappell DA; Smith RS; Claiborne F; Snyder SM; Terdiman JF N Engl J Med; 1989 Jun; 320(24):1604-10. PubMed ID: 2725600 [No Abstract] [Full Text] [Related]
20. Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia. Noto D; Cefalù AB; Valenti V; Fayer F; Pinotti E; Ditta M; Spina R; Vigna G; Yue P; Kathiresan S; Tarugi P; Averna MR Arterioscler Thromb Vasc Biol; 2012 Mar; 32(3):805-9. PubMed ID: 22247256 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]