| Autor: |
Massa A, Cianciulli P, Cianetti L, Iazzone R, Cenci A, francesco sorrentino, Franco G, Pecci G, Papa G, Peschle C |
| Rok vydání: |
1994 |
| Předmět: |
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| Zdroj: |
Europe PubMed Central |
| ISSN: |
0390-6078 |
| Popis: |
We studied the molecular bases of beta-thalassemia in Rome, a city centrally located in Latium, which is a region with a low incidence of beta-carriers. People also come to Rome from other regions for specific or prenatal diagnostic assessment. Only 11 patients (20%) out of 62 characterized beta-thalassemia subjects were of Latium family origin. They presented five mutations with an uncommonly high frequency of the IVSII-745 allele, that was found in homozygosis in 4 unrelated patients from a southeastern area in the province of Frosinone. These data may indicate a founder effect. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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