A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis

Pediatric Blood and Cancer

Volumn 61, Issue 8, 2014, Pages 1457-1459

  Kaya, Zühre ^a   Niu, Dau Ming ^b   Yorulmaz, Asli ^c   Tekin, Aziz ^d   Gürsel, Türkiz ^a  

^a GAZI UNIVERSITY   (Turkey)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c ADNAN MENDERES UNIVERSITY   (Turkey)

^d ANKARA UNIVERSITY   (Turkey)

Author keywords

ABCG5 gene; Novel mutation; Phytosterolemia

Indexed keywords

ABC TRANSPORTER G5; ABC TRANSPORTER G8; CAMPESTEROL; EZETIMIBE; GLIADIN ANTIBODY; PHYTOSTEROL; SITOSTEROL; STIGMASTEROL;

ANTIBODY TITER; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING SITE; BLOOD SMEAR; CASE REPORT; CELIAC DISEASE; CHILD; DISEASE SEVERITY; DNA POLYMORPHISM; DOPPLER FLOWMETRY; EPISTAXIS; FAMILY HISTORY; FOLLOW UP; GAS CHROMATOGRAPHY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GLUTEN FREE DIET; GROWTH RETARDATION; HEMOLYTIC ANEMIA; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LIPID BLOOD LEVEL; LIPIDOSIS; MALE; NUCLEOTIDE SEQUENCE; PALLOR; PHYSICAL EXAMINATION; PHYTOSTEROLEMIA; PRIORITY JOURNAL; RECURRENT DISEASE; RNA SPLICING; SCHOOL CHILD; SPLENOMEGALY; STOMATOCYTOSIS; THROMBOCYTE; THROMBOCYTOPENIA; TREATMENT DURATION; TURK (PEOPLE); XANTHOMA;

ABCG5 GENE; NOVEL MUTATION; PHYTOSTEROLEMIA;

ANTICHOLESTEREMIC AGENTS; ATP-BINDING CASSETTE TRANSPORTERS; AZETIDINES; CHILD; HEMATOLOGIC DISEASES; HUMANS; HYPERCHOLESTEROLEMIA; INTESTINAL DISEASES; LIPID METABOLISM, INBORN ERRORS; LIPOPROTEINS; MALE; PHYTOSTEROLS; POINT MUTATION;

EID: 84901979993     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24934     Document Type: Article

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