Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene

Molecular Genetics and Genomics

Volumn 283, Issue 6, 2010, Pages 565-574

  Tejedor, M T ^a   Cenarro, A ^b   Tejedor, D ^c   Stef, M ^c   Mateo Gallego, R ^b   De Castro, I ^a   Garcia Otin A L ^b   Monteagudo, L V ^a   Civeira, F ^b   Pocovi, M ^a  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c Parque Tecnologico de Bizkaia   (Spain)

Author keywords

Age of mutations inference; Familial hypercholesterolemia; Linkage disequilibrium; Populations history; Tag SNPs

Indexed keywords

GENOMIC DNA; LOW DENSITY LIPOPROTEIN RECEPTOR; MUTANT PROTEIN;

ARTICLE; CHINA; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC SELECTION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; LOW DENSITY LIPOPROTEIN RECEPTOR GENE; MAJOR CLINICAL STUDY; MEXICO; MIGRATION; MOLECULAR EVOLUTION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; CORONARY ARTERY DISEASE; DNA SEQUENCE; FAMILY SIZE; GENETICS; HYPERLIPOPROTEINEMIA TYPE 2; MUSCULOSKELETAL DISEASE; MUTATION; PATHOLOGY; PHYSIOLOGY; TENDON; XANTHOMATOSIS;

CORONARY DISEASE; EVOLUTION, MOLECULAR; FAMILY CHARACTERISTICS; HAPLOTYPES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LINKAGE DISEQUILIBRIUM; MUSCULOSKELETAL DISEASES; MUTANT PROTEINS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA; SPAIN; TENDONS; XANTHOMATOSIS;

EID: 77952787182     PISSN: 16174615     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00438-010-0541-8     Document Type: Article

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