title: A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia.
authors.forename: Belinda K
authors.initials: BK
authors.lastname: Singleton
authors.forename: David J
authors.initials: DJ
authors.lastname: Roxby
authors.forename: John W
authors.initials: JW
authors.lastname: Stirling
authors.forename: Frances A
authors.initials: FA
authors.lastname: Spring
authors.forename: Carolyn
authors.initials: C
authors.lastname: Wilson
authors.forename: Joyce
authors.initials: J
authors.lastname: Poole
authors.forename: David J
authors.initials: DJ
authors.lastname: Anstee
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D001792:Blood Platelets / Q000648:ultrastructure; D015815:Cell Adhesion Molecules / Q000235:genetics; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008188:Lutheran Blood-Group System / Q000235:genetics; D008297:Male; D008854:Microscopy, Electron; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype; D016415:Sequence Alignment; D013921:Thrombocytopenia / Q000235:genetics*
chemical_list: C090228:BCAM protein, human; D015815:Cell Adhesion Molecules; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D008188:Lutheran Blood-Group System