Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Fernandez Higuero J A ^a   Etxebarria, A ^a   Benito Vicente, A ^a   Alves, A C ^a,b,c   Arrondo, J L R ^a   Ostolaza, H ^a   Bourbon, M ^b,c   Martin, C ^a  

^a UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c UNIVERSITY OF LISBON   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; APOLIPOPROTEIN B100; CODON; LOW DENSITY LIPOPROTEIN; PROTEIN BINDING;

AMINO ACID SUBSTITUTION; CELL LINE; CHEMISTRY; CODON; FAMILIAL HYPERCHOLESTEROLEMIA; GENETICS; HUMAN; LYMPHOCYTE; METABOLISM; MUTATION; PARTICLE SIZE; PROTEIN SECONDARY STRUCTURE; ULTRASTRUCTURE;

AMINO ACID SUBSTITUTION; APOLIPOPROTEIN B-100; APOLIPOPROTEINS B; CELL LINE; CODON; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPOPROTEINS, LDL; LYMPHOCYTES; MUTATION; PARTICLE SIZE; PROTEIN BINDING; PROTEIN STRUCTURE, SECONDARY;

EID: 84949524038     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep18184     Document Type: Article

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