A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 9, 2008, Pages 3577-3583

  Blesa, Sebastian ^a,d   Vernia, Santiago ^b   Garcia Garcia, Ana Barbara ^a,d   Martinez Hervas, Sergio ^a,d   Ivorra, Carmen ^a   Gonzalez Albert, Veronica ^a,d   Ascaso, Juan Francisco ^a,d   Martín Escudero, Juan Carlos ^c   Real, Jose Tomas ^a,d   Carmena, Rafael ^a,d   Casado, Marta ^b   Chaves, Felipe Javier ^a,d,e  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^c HOSPITAL UNIVERSITARIO RÍO HORTEGA   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

^e UNIVERSITY OF VALENCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MEVINOLIN; PROPROTEIN CONVERTASE KEXIN TYPE 9; PROPROTEIN CONVERTASE SUBTILISIN TYPE 9; SERINE PROTEINASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HYPERCHOLESTEROLEMIA; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PCSK9 GENE; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; PROMOTER REGION; TRANSCRIPTION INITIATION; WILD TYPE;

EID: 51649114846     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-0269     Document Type: Article

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