Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus

Haematologica. 2014 Sep;99(9):e168-70. doi: 10.3324/haematol.2014.110312. Epub 2014 Jun 3.

¹ Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
² Departments of Pediatrics and Biochemistry and Molecular Biology, Penn State University College of Medicine, Hershey, PA.
³ Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
⁴ Department of Genetics, Yale University School of Medicine, New Haven, CT, USA Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.
⁵ Department of Pediatrics, Yale University School of Medicine, New Haven, CT Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA Department of Pathology, Yale University School of Medicine, New Haven, CT, USA [email protected].

No abstract available

Keywords: anemia; chromosome 1q; erythrocyte; isodisomy; membrane; spectrin; spherocytosis; uniparental disomy.

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