Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. [electronic resource]
- Blood Dec 2015
- 2734-8 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
1528-0020
10.1182/blood-2015-09-659854 doi
Adult Aged Anemia, Sideroblastic--genetics Base Sequence DNA Mutational Analysis Female Genetic Diseases, X-Linked--genetics Genotype HSP70 Heat-Shock Proteins--genetics Humans Infant Infant, Newborn Male Middle Aged Mitochondrial Proteins--genetics Molecular Sequence Data Mutation Oligonucleotide Array Sequence Analysis Pedigree Polymorphism, Single Nucleotide Real-Time Polymerase Chain Reaction Reverse Transcriptase Polymerase Chain Reaction Young Adult