A novel point mutation (Pro84 → Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia

Clinical Genetics

Volumn 51, Issue 3, 1997, Pages 191-195

  Vuorio, Alpo F ^a   Turtola, Hannu ^b   Kontula, Kimmo ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b NORTH KARELIA CENTRAL HOSPITAL   (Finland)

Author keywords

Familial hypercholesterolemia; LDL receptor gene; Mutation; Polymerase chain reaction

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; PROLINE; SERINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HYPERCHOLESTEROLEMIA; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN STRUCTURE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030935829     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02451.x     Document Type: Article

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