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Molecular basis of mild hyperphenylalaninaemia in Turkey

✍ Scribed by E. Yilmaz; F. Cali; V. Romano; I. Özalp; T. Coşkun; A. Tokatli; H. S. Kalkanoğlu; M. ÖzgüÇ


Book ID
110226572
Publisher
Springer
Year
2000
Tongue
English
Weight
38 KB
Volume
23
Category
Article
ISSN
0141-8955

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By using oligonucleotide hybridization, restriction endonuclease analysis and direct sequencing of amplified genomic DNA, we have been able to characterize 18 different mutations in the beta-globin genes of 161 beta-thalassemia homozygotes and 107 beta-thalassemia heterozygotes from Turkey (429 beta