[G6PD deficiency in a western area of Genoa. Genetic study of 4 new variants].
Investigations for G6PD deficiency have been carried out among 900 subjects at the Paediatric Departments of the hospitals in Sestri Ponente and Pegli, in the western part of Genoa. 24 G6PD deficient males, 15 heterozygous and 1 homozygous females have been detected. Four variants, which have been encountered during the population survey, are reported. All of them, upon full characterization, were found to be unique new variants.
D000328:Adult; D002648:Child; D005260:Female; D005828:Genetics, Population; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D008297:Male
Il deficit di G6PD in un'area del Ponente di Genova. Studio genetico di quattro nuove varianti.