Severe HDL deficiency due to novel defects in the ABCA1 transporter

Journal of Internal Medicine

Volumn 265, Issue 3, 2009, Pages 359-372

  Pisciotta, L ^b   Bocchi, L ^a   Candini, C ^a   Sallo, R ^b   Zanotti, I ^c   Fasano, T ^a   Chakrapani, A ^d   Bates, T ^e   Bonardi, R ^f   Cantafora, A ^g   Ball, S ^d   Watts, G ^e   Bernini, F ^c   Calandra, S ^a   Bertolini, S ^b  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF PARMA   (Italy)

^d BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f MOLINETTE HOSPITAL   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

ABCA1 gene mutations; Cholesterol efflux; Familial HDL deficiency; Tangier disease

Indexed keywords

ABC TRANSPORTER A1; AMINO ACID; CHOLESTEROL; MESSENGER RNA;

AMINO ACID SUBSTITUTION; ARTICLE; ATHEROSCLEROSIS; CELL CULTURE; CELL STRAIN HEK293; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; EMBRYO; FEMALE; FIBROBLAST; GENE DELETION; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSFECTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOALPHALIPOPROTEINEMIA; INTRON; LIPID STORAGE; MALE; MISSENSE MUTATION; MUTANT; PATIENT REFERRAL; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN CONTENT; PROTEIN DEGRADATION; PROTEIN EXPRESSION; RETICULOENDOTHELIAL SYSTEM;

ADULT; AGED; AMINO ACID SUBSTITUTION; APOLIPOPROTEIN A-I; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CHILD, PRESCHOOL; CHOLESTEROL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FIBROBLASTS; FRAMESHIFT MUTATION; HUMANS; LIPOPROTEINS, HDL; MALE; MIDDLE AGED; MUTATION, MISSENSE;

EID: 60349123124     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/j.1365-2796.2008.02019.x     Document Type: Article

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