Novel missense MTTP gene mutations causing abetalipoproteinemia

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Volumn 1841, Issue 10, 2014, Pages 1548-1554

  Miller, Sharon A ^a   Burnett, John R ^b,c   Leonis, Mike A ^d   McKnight, C James ^e   Van Bockxmeer, Frank M ^a,c   Hooper, Amanda J ^a,b,c  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c ROYAL PERTH HOSPITAL   (Australia)

^d UNIVERSITY OF CINCINNATI   (United States)

^e BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Abetalipoproteinemia; Lipid transfer activity; Microsomal triglyceride transfer protein; Missense mutations

Indexed keywords

ALANINE AMINOTRANSFERASE; APOLIPOPROTEIN B; APOLIPOPROTEIN B17; APOLIPOPROTEIN B48; ASPARTATE AMINOTRANSFERASE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN; UNCLASSIFIED DRUG; ALPHA TOCOPHEROL; CHOLESTEROL; COMPLEMENTARY DNA; GENOMIC DNA; PROTEIN DISULFIDE ISOMERASE;

ABETALIPOPROTEINEMIA; ADULT; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; COS 7 CELL LINE; FEMALE; FRAMESHIFT MUTATION; HUMAN; HUMAN TISSUE; INFANT; LIPID TRANSPORT; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; WILD TYPE; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ANIMAL CELL; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; COMPUTER MODEL; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DRUG MEGADOSE; EXON; FAILURE TO THRIVE; GENE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC SCREENING; HYPOCHOLESTEROLEMIA; IMMUNOBLOTTING; INHERITANCE; MTTP GENE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHOSPHOLIPID TRANSFER; PROTEIN EXPRESSION; TRANSIENT EXPRESSION; TRANSIENT TRANSFECTION;

EID: 84910058739     PISSN: 13881981     EISSN: 18792618     Source Type: Journal    
DOI: 10.1016/j.bbalip.2014.08.001     Document Type: Article

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