Novel LDLR variants in patients with familial hypercholesterolemia: In silico analysis as a tool to predict pathogenic variants in children and their families

Annals of Human Genetics

Volumn 77, Issue 5, 2013, Pages 426-434

  Mollaki, Vasiliki ^a   Progias, Pavlos ^a   Drogari, Euridiki ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

Familial hypercholesterolemia (FH); Genetics; In silico; Low density lipoprotein receptor (LDLR); Novel variants

Indexed keywords

CHOLESTEROL; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; COMPUTER MODEL; DNA SEQUENCE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; GREECE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PATHOGENICITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STABILITY; SCHOOL CHILD;

FAMILIAL HYPERCHOLESTEROLEMIA (FH); GENETICS; IN SILICO; LOW-DENSITY LIPOPROTEIN RECEPTOR (LDLR); NOVEL VARIANTS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GENETIC VARIATION; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALE; MIDDLE AGED; PHENOTYPE; RECEPTORS, LDL; YOUNG ADULT;

EID: 84892967127     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12032     Document Type: Article

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