A mild thalassemia major resulting from a compound heterozygosity for the IVS-II-1 (G----A) mutation and the rare T----C mutation at the polyadenylation site.
Altay
C
C
Children's Medical Center, Hacettepe University, Ankara, Turkey.
Gurgey
A
A
Oner
R
R
Kutlar
A
A
Kutlar
F
F
Huisman
T H
TH
D000328:Adult; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D010375:Pedigree; D012323:RNA Processing, Post-Transcriptional; D012045:Regulatory Sequences, Nucleic Acid; D013789:Thalassemia / Q000208:ethnology / Q000235:genetics*; D014421:Turkey; D044465:White People / Q000235:genetics
D005914:Globins