http://www.cnr.it/ontology/cnr/individuo/prodotto/ID223464

Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity correlation genotype-phenotype description of a new variant (G6PD Neapolis). (Articolo in rivista)

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Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity correlation genotype-phenotype description of a new variant (G6PD Neapolis). (Articolo in rivista) (literal)

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ALFINITO F, CIMMINO A, FERRARO F, CUBELLIS MV, VITAGLIANO L, FRANCESE M, ZAGARI A, ROTOLI B, FILOSA S, MARTINI G (1997)
Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity correlation genotype-phenotype description of a new variant (G6PD Neapolis).
in British journal of haematology (Print); Blackwell Publishing, Oxford (Regno Unito)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

ALFINITO F, CIMMINO A, FERRARO F, CUBELLIS MV, VITAGLIANO L, FRANCESE M, ZAGARI A, ROTOLI B, FILOSA S, MARTINI G (literal)

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[ 1 ] CNR,IST INT GENET & BIOFIS,I-80125 NAPLES,ITALY [ 2 ] UNIV NAPLES FEDERICO II,DIPARTIMENTO CHIM ORGAN & BIOL,NAPLES,ITALY [ 3 ] CNR,CTR STUDIO BIOCRISTALLOG,I-80125 NAPLES,ITALY [ 4 ] UNIV NAPLES FEDERICO II,DIPARTIMENTO CHIM,NAPLES,ITALY [ 5 ] UNIV NAPLES,CLIN PEDIAT 2,NAPLES,ITALY (literal)

Titolo

Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity correlation genotype-phenotype description of a new variant (G6PD Neapolis). (literal)

Abstract

We report on the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Southern Italy (Campania region). Thirty-one unrelated G6PD- deficient males were analysed at DNA level for the presence of G6PD gene mutations. Nine different G6PD variants were identified, eight of which have already been described (Mediterranean, Seattle, two different A-, Santamaria, Cassano, Union and Cosenza). G6PD Mediterranean, Santamaria, A- and Union were associated with haemolytic episodes. G6PD Seattle, which is polymorphic in several populations, Cassano and Cosenza appeared to be asymptomatic. A new variant (G6PD Neapolis) is reported here. The 467Pro->Arg substitution reponsible for G6PD Neapolis is discussed in the light of the current 3D model of human G6PD and in comparison with other natural mutations which occur in the proximity of residue 467. (literal)

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