X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation.

Tubman, Venée N; Levine, Jason E; Campagna, Dean R; Monahan-Earley, Rita; Dvorak, Ann M; Neufeld, Ellis J; Fleming, Mark D

Tubman, Venée N; Levine, Jason E; Campagna, Dean R; Monahan-Earley, Rita; Dvorak, Ann M; Neufeld, Ellis J; Fleming, Mark D.

Affiliation

Tubman VN; Division of Hematology/Oncology, Children's Hospital Boston, 320 Longwood Avenue, Boston, MA, USA.

Blood ; 109(8): 3297-9, 2007 Apr 15.

Article in En | MEDLINE | ID: mdl-17209061

Subject(s)

Blood Platelets; GATA1 Transcription Factor/genetics; Genetic Diseases, X-Linked/genetics; Hemorrhage/genetics; Mutation, Missense; Thrombocytopenia/genetics; Amino Acid Substitution; Blood Platelets/metabolism; Blood Platelets/pathology; Chromosomes, Human, X/genetics; Cytoplasmic Granules/genetics; Cytoplasmic Granules/metabolism; Cytoplasmic Granules/pathology; Erythrocytes, Abnormal/metabolism; Erythrocytes, Abnormal/pathology; Female; GATA1 Transcription Factor/metabolism; Genetic Diseases, X-Linked/metabolism; Genetic Diseases, X-Linked/pathology; Hemorrhage/metabolism; Hemorrhage/pathology; Humans; Male; Pedigree; Quantitative Trait, Heritable; Syndrome; Thrombocytopenia/metabolism; Thrombocytopenia/pathology

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Collection: 01-internacional Database: MEDLINE Main subject: Thrombocytopenia / Blood Platelets / Mutation, Missense / Genetic Diseases, X-Linked / GATA1 Transcription Factor / Hemorrhage Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Blood Year: 2007 Document type: Article Affiliation country: United States

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