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- W2891624935 abstract "We present the description of a β-thalassemia (β-thal) -86 (C>G) (HBB: c.-136C>G) mutation in a Syrian family from Damascus, As-Suwayda Province, Syria, who was referred to the laboratory for prenatal diagnosis (PND). The mutation was found in the mother in a homozygous state, while it was in the father and in the amniotic fluid sample in a heterozygous state. This mutation is located at -86 within the proximal CACCC box in the promoter of the β-globin gene and is possibly linked with a phenotype of β+-thal. Polymerase chain reaction-restriction fragment length polymorphism (PCR/RFLP) analysis indicated that the -86 mutation was linked with haplotype I [+ - - - - + +]. We propose that Lebanon may be the origin of this mutation. To the best of our knowledge, this is the first report describing this mutation in As-Suwayda Province. These findings provide novel information on the region-specificity of this mutation in southwestern Syria." @default.
- W2891624935 created "2018-09-27" @default.
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- W2891624935 date "2018-05-04" @default.
- W2891624935 modified "2023-09-27" @default.
- W2891624935 title "Description of a Rare β-Globin Gene Mutation: –86 (C>G) (<i>HBB</i>: c.-136C>G) Observed in a Syrian Family" @default.
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- W2891624935 doi "https://doi.org/10.1080/03630269.2018.1500918" @default.
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