GFI1B mutation causes a bleeding disorder with abnormal platelet function.

Stevenson, W S; Morel-Kopp, M-C; Chen, Q; Liang, H P; Bromhead, C J; Wright, S; Turakulov, R; Ng, A P; Roberts, A W; Bahlo, M; Ward, C M

Stevenson, W S; Morel-Kopp, M-C; Chen, Q; Liang, H P; Bromhead, C J; Wright, S; Turakulov, R; Ng, A P; Roberts, A W; Bahlo, M; Ward, C M.

Affiliation

Stevenson WS; Department of Haematology, Royal North Shore Hospital, Sydney, NSW, Australia; Northern Blood Research Centre, Kolling Institute of Medical Research, The University of Sydney, Sydney, NSW, Australia.

J Thromb Haemost ; 11(11): 2039-47, 2013 Nov.

Article in En | MEDLINE | ID: mdl-23927492

Subject(s)

Blood Platelet Disorders/genetics; Blood Platelets/pathology; Mutation; Proto-Oncogene Proteins/genetics; Repressor Proteins/genetics; Adult; Aged; Aged, 80 and over; Blood Platelets/metabolism; Erythrocytes/cytology; Female; Frameshift Mutation; Genetic Linkage; Humans; Male; Megakaryocytes/cytology; Middle Aged; Phenotype; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; Transfection; Young Adult

Key words

GFI1B protein; blood platelet disorders; genetic linkage; human; thrombocytopenia; transcription factors

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Blood Platelet Disorders / Blood Platelets / Proto-Oncogene Proteins / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: J Thromb Haemost Journal subject: HEMATOLOGIA Year: 2013 Type: Article Affiliation country: Australia

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