Pancytopenia and megaloblastic erythropoiesis reveal a novel GIF mutation

Br J Haematol. 2018 May;181(3):304. doi: 10.1111/bjh.15104. Epub 2018 Jan 25.

Authors

Paul Saultier^{1

2}, Marie Loosveld^{3

4}, Jean-François Benoist⁵, Gérard Michel¹

Affiliations

¹ Department of Paediatric Haematology and Oncology, APHM, CHU Timone Enfants, Marseille, France.
² Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France.
³ CHU Timone, Laboratory of Haematology, APHM, Marseille, France.
⁴ Aix Marseille Univ, CNRS, INSERM, CIML, Marseille, France.
⁵ Department of Biochemistry, APHP, Robert Debré University Hospital, Paris, France.

PMID: 29368379
DOI: 10.1111/bjh.15104

No abstract available

Publication types

Case Reports

MeSH terms

Anemia, Megaloblastic / genetics*
Anemia, Megaloblastic / pathology
Erythropoiesis / genetics*
Humans
Infant
Male
Pancytopenia / genetics*
Pancytopenia / pathology
Point Mutation*
Transcobalamins / genetics*

Substances

Transcobalamins