Multiple splice defects in ABCA1 cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease

BMC Medical Genetics

Volumn 10, Issue , 2009, Pages

  Rhyne, Jeffrey ^a   Mantaring, Myrna M ^a   Gardner, David F ^b   Miller, Michael ^a  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER A1; ACYLCARNITINE CARNITINE TRANSLOCASE; AMINO ACID; CARRIER PROTEIN; COMPLEMENTARY DNA; DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; RNA; UNCLASSIFIED DRUG; ABC TRANSPORTER; PRIMER DNA;

ADULT; AGED; ARTICLE; BIOINFORMATICS; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CHOLESTEROL BLOOD LEVEL; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; EXON; FEMALE; GENE CONSTRUCT; GENE FREQUENCY; GENE ISOLATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HYPOALPHALIPOPROTEINEMIA; IN VITRO STUDY; INTRON; MALE; OCULAR ALBINISM; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREMATURITY; PROTEIN DEFICIENCY; SINGLE STRAND CONFORMATION POLYMORPHISM; ALTERNATIVE RNA SPLICING; BLOOD; CASE REPORT; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADULT; ALTERNATIVE SPLICING; ATP-BINDING CASSETTE TRANSPORTERS; CHOLESTEROL, HDL; CORONARY DISEASE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; HUMANS; HYPOALPHALIPOPROTEINEMIAS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 60549087753     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-10-1     Document Type: Article

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