Spectrum of beta-thalassemia mutations in Calabria: implications for prenatal diagnosis.

doi:10.1002/ajh.2830480213

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Article

Spectrum of beta-thalassemia mutations in Calabria: implications for prenatal diagnosis.

American journal of hematology - 1 Feb 1995

Magro S, Santilli E, Mancuso R, Puzzonia P, Consarino C, Morgione S, Galati M C, Fersini G, Madonna G, Brancati C

Abstract excerpt

Using a combination of oligonucleotide probes and restriction endonuclease enzymes, we characterize beta-thalassemic mutations in 91 homozygous patients and 86 unrelated carriers. Overall, 268 beta-thalassemic genes were obtained. Eleven beta-globin mutations were identified, confirming the wide...

Topics

Codon
Female
Frameshift Mutation
Heterozygote
Homozygote
Humans
Italy
Mutation
Pregnancy
Prenatal Diagnosis
beta-Thalassemia

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