Fig. 2From: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case reportNovel mutations were identified in the SLC19A2 gene. Sequences showed two heterozygous mutation (c.903delG p.Trp301Cysfs*13; c.405dupA, p.Ala136Serfs*3). His father carried c.903delG p.Trp301Cysfs*13 (heterozygous) and his mother carried c.405dupA, p.Ala136Serfs*3 (heterozygous).The red arrow indicates the mutation siteBack to article page