Defective mRNA levels are responsible for a beta-thalassemia phenotype associated with Hb Federico II, a novel hemoglobin variant [beta-106 (G8) Leu->Val].
Grosso
Michela
M
Palumbo
Ilaria
I
Morelli
Emanuela
E
Puzone
Stella
S
Sessa
Raffaele
R
Izzo
Paola
P
D003062:Codon; D005260:Female; D006454:Hemoglobins / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007930:Leucine / Q000737:chemistry; D008297:Male; D008957:Models, Genetic; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D014633:Valine / Q000737:chemistry; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
D003062:Codon; D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D007930:Leucine; D014633:Valine