A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia

British Journal of Haematology

Volumn 161, Issue 1, 2013, Pages 139-142

  Singleton, Belinda K ^a   Roxby, David J ^b   Stirling, John W ^c   Spring, Frances A ^a   Wilson, Carolyn ^d   Poole, Joyce ^a   Anstee, David J ^a  

^a NHS BLOOD AND TRANSPLANT   (United Kingdom)

^b FLINDERS MEDICAL CENTRE   (Australia)

^c SA Pathology   (Australia)

^d AUSTRALIAN RED CROSS BLOOD SERVICE   (Australia)

Author keywords

Blood group phenotype; GATA1; Lutheran; Mutation; Thrombocytopenia

Indexed keywords

ARGININE; GENOMIC DNA; GLYCOPROTEIN; LUTHERAN GLYCOPROTEIN; TRANSCRIPTION FACTOR GATA 1; UNCLASSIFIED DRUG;

AGED; BLOOD GROUP LUTHERAN SYSTEM; CASE REPORT; DISEASE SEVERITY; DNA EXTRACTION; DNA SEQUENCE; FAMILIAL DISEASE; FLOW CYTOMETRY; GATA1 GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; LETTER; MACROTHROMBOCYTIC THROMBOCYTOPENIA; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PRIORITY JOURNAL; SEROLOGY; THROMBOCYTOPENIA; X CHROMOSOMAL INHERITANCE;

AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; BLOOD PLATELETS; CELL ADHESION MOLECULES; FEMALE; GATA1 TRANSCRIPTION FACTOR; GENETIC DISEASES, X-LINKED; HUMANS; LUTHERAN BLOOD-GROUP SYSTEM; MALE; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE ALIGNMENT; THROMBOCYTOPENIA;

EID: 84875054519     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12184     Document Type: Letter

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