A novel beta-thalassemia intermedia phenotype containing Nt494+129T-->C and NT494+132C-->A mutations in cis and a Nt168C-->T (beta(o) 39 point) mutation in trans.
作者信息
Heath J A, Beaverson K, Giardina P, Boehm C, Cutting G
出版信息
Am J Hematol. 2001 May;67(1):57-8. doi: 10.1002/ajh.1078.