C-->T mutation at -158 G gamma HPFH associated with 4 bp deletion (-225-222) in the promoter region of the A gamma gene in homozygous beta 0 39 nonsense thalassemia.
Ataulfo Gonzalez
F
F
Ropero
P
P
Sánchez
J
J
Rosatellí
C
C
Galanello
R
R
Villegas
A
A
D000328:Adult; D003062:Codon / Q000235:genetics; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D005914:Globins / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics*; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000235:genetics*
D003062:Codon; D005914:Globins; D005319:Fetal Hemoglobin