[A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia].

Abstract excerpt

OBJECTIVE: To confirm the mutation of ALAS2 gene is the cause of sideroblastic anemia in a family. METHODS: Polymerase chain reaction (PCR) was used to amplify the microsatellite DXS 991, DXS 1199 in the chromosome Xp11.22 linked gene ALAS2 and haplotype analysis was performed in a kindred with 2 patients and 7 normal members. All cDNA encoded regions in the ALAS2 gene of the patients and their normal siblings...

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