Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia. [electronic resource]
- Biochimica et biophysica acta Dec 1992
- 173-9 p. digital
Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0006-3002
10.1016/0925-4439(92)90065-u doi
Amino Acid Sequence Base Sequence Child Codon Globins--genetics Hemoglobins, Abnormal--genetics Heterozygote Humans Male Molecular Sequence Data Mutation Pedigree beta-Thalassemia--genetics