Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence

Autor: De Angioletti M., Lacerra G., Sabato V., Carestia C.

Publikováno v: British journal of haematology
124 (2004): 224–231. doi:10.1046/j.1365-2141.2003.04754.x
info:cnr-pdr/source/autori:De Angioletti M.; Lacerra G.; Sabato V.; Carestia C./titolo:Beta+45 G--> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence/doi:10.1046%2Fj.1365-2141.2003.04754.x/rivista:British journal of haematology (Print)/anno:2004/pagina_da:224/pagina_a:231/intervallo_pagine:224–231/volume:124

A family from the Southeast of Italy was found to have a novel beta-globin mutant, beta+45 G ->C, with the features of a silent beta-thalassaemia mutation. It was asymptomatic in two heterozygotes, but its interaction with the severe thalassaemia mut

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http://www.cnr.it/prodotto/i/26650