Molecular characterization of G6PD deficiency in Southern Italy: Heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis)

British Journal of Haematology

Volumn 98, Issue 1, 1997, Pages 41-46

  Alfinito, Fiorella ^a,b   Cimmino, Amelia ^a,b   Ferraro, Filomena ^a   Cubellis, Maria Vittoria ^a   Vitagliano, Luigii ^a   Francese, Matteo ^a   Zagari, Adriana ^a   Rotoli, Brino ^a   Filosa, Stefania ^b   Martini, Giuseppe ^b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

Author keywords

G6PD deficiency; G6PD molecular heterogeneity; G6PD Neapolis; G6PD variants

Indexed keywords

DNA; ENZYME VARIANT; GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; ENZYME DEFICIENCY; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; ITALY; MALE; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 8544284858     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1997.1512967.x     Document Type: Article

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