G. V. Sciarratta

A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.

Morgan Baird, Catherine Driscoll, H Schreiner et al. · Proceedings of the National Academy of Sciences · 1981 · 103 citations · Full text

Genetic Analysis, Allelic Variant, Genetic Disorder +12

The occurrence of different levels of ^Gγ chain and of the ^Aγ^T variant of fetal hemoglobin in newborn babies from several countries

T. H. J. Huisman, A. L. Reese, Melissa Gardiner et al. · American Journal of Hematology · 1983 · 58 citations

A β‐thalassaemia phenotype not linked to the β‐globin cluster in an Italian family

S Murru, Georgios Loudianos, Susanna Porcu et al. · British Journal of Haematology · 1992 · 39 citations

The C–T substitution in the distal CACCC box of the β‐globin gene promoter is a common cause of silent β thalassaemia in the Italian population

Maria Serafina Ristaldi, S Murru, Georgios Loudianos et al. · British Journal of Haematology · 1990 · 35 citations

Biology, Mendelian Disorder, Genetic Disorder +14

Promoter mutations producing mild β‐thalassaemia in the Italian population

Alessandra Meloni, Maria Cristina Rosatelli, V. Faà et al. · British Journal of Haematology · 1992 · 30 citations