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Functional analysis of a novelKLF1gene promoter variation associated with hereditary persistence of fetal hemoglobin

✍ Scribed by Radmilovic, Milena; Zukic, Branka; Petrovic, Maja Stojiljkovic; Bartsakoulia, Marina; Stankovic, Biljana; Kotur, Nikola; Dokmanovic, Lidija; Georgitsi, Marianthi; Patrinos, George P.; Pavlovic, Sonja


Book ID
118159213
Publisher
Springer
Year
2012
Tongue
English
Weight
264 KB
Volume
92
Category
Article
ISSN
0939-5555

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We have identified three unrelated individuals and three members of a family with the non-deletion form of A β₯-hereditary persistence of fetal hemoglobin (HPFH). Molecular analysis showed that each individual is a heterozygote for a previously described -195 A β₯ (Cβ†’G) mutation. The ␀-globin gene clu