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p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.
Benito-Vicente, A; Siddiqi, H; Uribe, K B; Jebari, S; Galicia-Garcia, U; Larrea-Sebal, A; Stef, M; Ostolaza, H; Palacios, L; Martin, C.
Affiliation
  • Benito-Vicente A; Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Apdo. 644, 48080, Bilbao, Spain.
  • Siddiqi H; Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Apdo. 644, 48080, Bilbao, Spain.
  • Uribe KB; Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Apdo. 644, 48080, Bilbao, Spain.
  • Jebari S; Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Apdo. 644, 48080, Bilbao, Spain.
  • Galicia-Garcia U; Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Apdo. 644, 48080, Bilbao, Spain.
  • Larrea-Sebal A; Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Apdo. 644, 48080, Bilbao, Spain.
  • Stef M; Progenika Biopharma, a Grifols Company, Derio, Spain.
  • Ostolaza H; Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Apdo. 644, 48080, Bilbao, Spain.
  • Palacios L; Progenika Biopharma, a Grifols Company, Derio, Spain.
  • Martin C; Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Apdo. 644, 48080, Bilbao, Spain. cesar.martin@ehu.eus.
Sci Rep ; 8(1): 16614, 2018 11 09.
Article in En | MEDLINE | ID: mdl-30413722

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, LDL / Mutation, Missense / Mutant Proteins / Hyperlipoproteinemia Type II / Lipoproteins Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Sci Rep Year: 2018 Document type: Article Affiliation country: Spain Country of publication: United kingdom

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, LDL / Mutation, Missense / Mutant Proteins / Hyperlipoproteinemia Type II / Lipoproteins Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Sci Rep Year: 2018 Document type: Article Affiliation country: Spain Country of publication: United kingdom