Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin

The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic variants responsible for hereditary persistence of fetal hemoglobin, linked and not linked to the beta globin gene cluster, have been identified...

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Vydané v:	Haematologica (Roma) Ročník 96; číslo 5; s. 767 - 770
Hlavní autori:	Satta, S., Perseu, L., Moi, P., Asunis, I., Cabriolu, A., Maccioni, L., Demartis, F. R., Manunza, L., Cao, A., Galanello, R.
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Pavia Ferrata Storti Foundation 01.05.2011
Predmet:	Adult Base Sequence Biological and medical sciences Brief Reports DNA Mutational Analysis Erythrocytes - metabolism Family Health Female Fetal Hemoglobin - metabolism Fluorometry HEK293 Cells Hematologic and hematopoietic diseases Heterozygote Humans Italy Kruppel-Like Transcription Factors - genetics Male Medical sciences Middle Aged Mutation Pedigree Polymerase Chain Reaction Protoporphyrins - metabolism Italy red cell Hematology Red blood cell Krppel-like factor 1 Fetal hemoglobin KLF1 Compound heterozygosity heterozygosity Blood cell Protoporphyrin Fetal cell Genetics Mutation
ISSN:	0390-6078, 1592-8721, 1592-8721
On-line prístup:	Získať plný text
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