An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)

Clinical Genetics

Volumn 55, Issue 5, 1999, Pages 332-339

  Ekström, Ulf ^a   Abrahamson, Magnus ^a   Florén, Claes Henrik ^a   Tollig, Henrik ^b   Wettrell, Göran ^a   Nilsson, Gerd ^a   Sun, Xi Ming ^c   Soutar, Anne K ^c   Nilsson Ehle, Peter ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b University Hospital of Malmö ^*  (Sweden)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Expression; Familial hypercholesterolemia; LDL receptor; Mutation; Phenotype

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; PROTEIN PRECURSOR;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHOLESTEROL ESTERIFICATION; CLINICAL ARTICLE; CROSS LINKING; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FIBROBLAST; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LIPOPROTEIN METABOLISM; MALE; MOLECULAR WEIGHT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHO CELLS; CRICETINAE; DNA, COMPLEMENTARY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, LDL;

RAPHIA FRATER;

EID: 0033055179     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.550506.x     Document Type: Article

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