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Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy
- Source :
- Bone marrow transplantation. 51(12)
- Publication Year :
- 2016
-
Abstract
- Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy
- Subjects :
- Hemolytic anemia
Male
Anemia, Hemolytic
Adolescent
medicine.medical_treatment
Splenectomy
Pyruvate Kinase
Hematopoietic stem cell transplantation
03 medical and health sciences
0302 clinical medicine
Exome Sequencing
medicine
Living Donors
Humans
Exome
Progenitor cell
Child
Exome sequencing
Alleles
Family Health
Transplantation
business.industry
Siblings
Hematopoietic Stem Cell Transplantation
Infant
Bilirubin
Hematology
medicine.disease
030220 oncology & carcinogenesis
Child, Preschool
Immunology
Mutation
Female
Stem cell
business
Megakaryocytes
030215 immunology
Subjects
Details
- ISSN :
- 14765365
- Volume :
- 51
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Bone marrow transplantation
- Accession number :
- edsair.doi.dedup.....4e874fecb41b0862c5af58844e5f40cb