Fig. 1
From: Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing
The results of mutations of ALAS2 and SLC25A38, which were detected in this study by targeted sequencing. a Homozygous missense mutation c.1412G > A of ALAS2 in Patient no. 3. b Homozygous missense mutation c.400C > T of SLC25A38 in Patient no. 4. c Homozygous missense mutation c.560G > A of SLC25A38 in Patient no. 5. d Heterozygous nonsense mutation c.260G > A of SLC25A38 in Patient no. 6. e Heterozygous nonsense mutations c.429delT and c.431 T > G of SLC25A38 in Patient no. 6