Different substitutions at residue D218 of the X-linked transciption factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation

Human Molecular Genetics

Volumn 11, Issue 2, 2002, Pages 147-152

  Freson, Kathleen ^a   Matthijs, Gert ^b   Thys, Chantal ^a   Mariën, Paul ^b,c   Hoylaerts, Marc F ^a   Vermylen, Jos ^a   Van Geet, Chris ^a,b  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c SINT AUGUSTINUS HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MUTANT PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GATA 1; ZINC FINGER PROTEIN;

ALLELE; AMINO TERMINAL SEQUENCE; ARTICLE; BETA THALASSEMIA; BINDING AFFINITY; CELL DIFFERENTIATION; CONTROLLED STUDY; DISEASE SEVERITY; DNA BINDING; DYSERYTHROPOIESIS; ERYTHROCYTE STRUCTURE; GENE EXPRESSION; GENE TARGETING; HEMATOPOIESIS; HEMIZYGOTE; HEREDITARY HEMOLYTIC ANEMIA; HUMAN; HUMAN CELL; LEUKOCYTE; MEGAKARYOCYTE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; THROMBOCYTE STRUCTURE; THROMBOCYTOPENIA; X CHROMOSOME INACTIVATION;

AMINO ACID SUBSTITUTION; ANEMIA; ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; BLOOD PLATELETS; CARRIER PROTEINS; DNA-BINDING PROTEINS; DOSAGE COMPENSATION, GENETIC; ERYTHROCYTES, ABNORMAL; ERYTHROID-SPECIFIC DNA-BINDING FACTORS; FEMALE; GATA1 TRANSCRIPTION FACTOR; GENE EXPRESSION; HETEROZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR PROTEINS; THROMBOCYTOPENIA; TRANSCRIPTION FACTORS; X CHROMOSOME; ZINC FINGERS;

EID: 0037081819     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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