Semiquantitative multiplex PCR: A useful tool for large rearrangement screening and characterization

Human Mutation

Volumn 27, Issue 8, 2006, Pages 822-828

  Garcia Garcia, Ana B ^a   Blesa, Sebastian ^a   Martinez Hervas, Sergio ^a   Mansego, M Luisa ^a   Gonzalez Albert, Veronica ^a   Ascaso, Juan F ^a   Carmena, Rafael ^a   Real, Jose T ^a   Chaves, Felipe J ^a  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

Author keywords

APOB; Familial hypercholesterolemia; FH; Genetic diagnosis; Large rearrangements; LDLR; Mutation screening; Semiquantitative PCR

Indexed keywords

APOLIPOPROTEIN B; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CAUCASIAN; CHROMATOGRAPHY; CHROMOSOME 19; CONTROLLED STUDY; DIAGNOSTIC VALUE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; HUMAN TISSUE; LDLR GENE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; SOUTHERN BLOTTING;

APOLIPOPROTEINS B; CHROMOSOME ABERRATIONS; EXONS; GENE DELETION; GENETIC SCREENING; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; POLYMERASE CHAIN REACTION; RECEPTORS, LDL;

EID: 33646932802     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20355     Document Type: Article

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