A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency

Clinica Chimica Acta

Volumn 409, Issue 1-2, 2009, Pages 136-139

  Hooper, Amanda J ^a,b   Robertson, Ken ^a   Ng, Lydia ^c   Kattampallil, Joseph S ^c   Latchem, Donald ^d   Willsher, Peter C ^e   Thom, James ^a   Baker, Ross I ^a,b   Burnett, John R ^a,b  

^a ROYAL PERTH HOSPITAL   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c Western Diagnostic Pathology ^*  (Australia)

^d Coastal Cardiology ^*  (Australia)

^e Mount Hospital   (Australia)

Author keywords

ABCA1; Hypoalphalipoproteinaemia; Mutation; Tangier disease

Indexed keywords

ABC TRANSPORTER A1; ARGININE; CHOLESTEROL; CHOLESTEROL ESTER; CYSTEINE; DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; THREONINE;

ADULT; ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEEDING TENDENCY; CASE REPORT; CHOLESTEROL TRANSPORT; DISEASE ASSOCIATION; DISEASE SEVERITY; GENE MUTATION; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; LIPID TRANSPORT; LYSOSOME; MALE; NIEMANN PICK DISEASE; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; RETICULOENDOTHELIAL SYSTEM; SEQUENCE ANALYSIS; SPLEEN HEMATOMA; SPLENECTOMY; STOP CODON; TANGIER DISEASE; THROMBOCYTE COUNT; THROMBOCYTOPENIA; TREATMENT OUTCOME;

ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; HEMORRHAGE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; TANGIER DISEASE;

EID: 70349807771     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2009.08.017     Document Type: Article

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