A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1587, Issue 1, 2002, Pages 7-11

  Pisciotta, Livia ^a   Cantafora, Alfredo ^b   De Stefano, Francesco ^c   Langheim, Silvia ^a   Calandra, Sebastiano ^d   Bertolini, Stefano ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

"de novo" mutation; Familial hypercholesterolemia; LDL R gene

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; RECEPTOR PROTEIN;

ADULT; ARTICLE; CHROMOSOME; CONTROLLED STUDY; DISEASE TRANSMISSION; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; LIPID BLOOD LEVEL; MALE; PATERNITY; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE;

CHILD; CYSTEINE; HETEROZYGOTE; HUMANS; HYPERCHOLESTEROLEMIA; MALE; MIDDLE AGED; MUTATION; PATERNITY; PEDIGREE; RECEPTORS, LDL; SERINE;

EID: 0037150285     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(02)00047-9     Document Type: Article

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