Screening of APOB gene mutations in subjects with clinical diagnosis of familial hypercholesterolemia

Human Biology

Volumn 77, Issue 5, 2005, Pages 663-673

  Meriño Ibarra, Erardo ^a   Castillo, Sergio ^a   Mozas, Pilar ^a   Cenarro, Ana ^b   Martorell, Esperanza ^c   Díaz, José Luis ^d   Suárez Tembra, Manuel ^e   Alonso, Rodrigo ^f   Civeira, Fernando ^b   Mata, Pedro ^f   Pocoví, Miguel ^a  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c HOSPITAL SON LLÀTZER   (Spain)

^d Hospital Abente y Lago   (Spain)

^e HOSPITAL SAN RAFAEL   (Spain)

^f Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

APOB; Autosomal dominant monogenic hypercholesterolemia (ADMH); Familial defective APOB; Hypercholesterolemia; LDLR; R3500Q mutation; Spain; SSCP (single strand conformation polymorphism) analysis; T3552T mutation

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DNA RESTRICTION; DNA SEQUENCE; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENETIC CONSERVATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; PROTEIN DOMAIN; RECEPTOR GENE; REGISTER; SPAIN;

EID: 33644873011     PISSN: 00187143     EISSN: None     Source Type: Journal    
DOI: 10.1353/hub.2006.0005     Document Type: Article

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