Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA 1

Nature Genetics

Volumn 24, Issue 3, 2000, Pages 266-270

  Nichols, Kim E ^a   Crispino, John D ^b   Poncz, Mortimer ^c   White, James G ^d   Orkin, Stuart H ^b   Maris, John M ^c   Weiss, Mitchell J ^c  

^a MASSACHUSETTS GENERAL HOSPITAL CANCER CENTER   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 1;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; ERYTHROID CELL; FAMILIAL DISEASE; GENE MUTATION; HEREDITARY HEMOLYTIC ANEMIA; HUMAN; HUMAN CELL; HUMAN TISSUE; MEGAKARYOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; THROMBOCYTOPENIA; X CHROMOSOMAL INHERITANCE;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; CHILD; CONSENSUS SEQUENCE; CRYPTORCHIDISM; DNA-BINDING PROTEINS; ERYTHROID-SPECIFIC DNA-BINDING FACTORS; FEMALE; GATA1 TRANSCRIPTION FACTOR; HEMATOPOIESIS; HUMANS; INFANT, NEWBORN; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT FUSION PROTEINS; THROMBOCYTOPENIA; TRANSCRIPTION FACTORS; X CHROMOSOME; ZINC FINGERS;

EID: 0034052854     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/73480     Document Type: Article

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