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A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia.
- Source :
-
British journal of haematology [Br J Haematol] 2013 Apr; Vol. 161 (1), pp. 139-42. Date of Electronic Publication: 2012 Dec 24. - Publication Year :
- 2013
- Subjects :
- Aged
Amino Acid Sequence
Base Sequence
Blood Platelets ultrastructure
Cell Adhesion Molecules genetics
Female
Humans
Lutheran Blood-Group System genetics
Male
Microscopy, Electron
Molecular Sequence Data
Phenotype
Sequence Alignment
GATA1 Transcription Factor genetics
Genetic Diseases, X-Linked genetics
Mutation, Missense
Thrombocytopenia genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1365-2141
- Volume :
- 161
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- British journal of haematology
- Publication Type :
- Report
- Accession number :
- 23278136
- Full Text :
- https://doi.org/10.1111/bjh.12184