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Identification of three novel Hb F variants: Hb F-Hayward [Gγ1(NA1)Gly→Asp, GGTGAT], Hb F-Chori-I [AγT16(A13)Gly→Asp, GGCGAC] and Hb F-Chori-II [AγI29(B11)Gly→Glu, GGAGAA]
- Source :
- Hemoglobin. 36(3)
- Publication Year :
- 2012
-
Abstract
- Three new γ-globin chain mutations were identified in four newborn samples referred to the Hemoglobinopathy Reference Laboratory at the Children's HospitalResearch Center Oakland, Oakland, CA, USA, for diagnostic testing. The variants were characterized by sequencing of amplified γ-globin genes. These three novel variants have been named Hb F-Hayward [(G)γ1(NA1)Gly→Asp, GGTGAT], Hb F-Chori-I [(A)γ(T)16(A13)Gly→Asp, GGCGAC] and Hb F-Chori-II [(A)γ(I)29(B11)Gly→Glu, GGAGAA], respectively. No functional studies could be performed.
Details
- ISSN :
- 1532432X
- Volume :
- 36
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Hemoglobin
- Accession number :
- edsair.pmid..........46040ed1c047deac0028cb9cf9003ec9