Article
Identification of G6PD Mediterranean mutation by amplification refractory mutation system.
Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2002
Maffi Donatella, Pasquino Maria Teresa, Caprari Patrizia, Caforio Maria Pia, Cianciulli Paolo, Sorrentino Francesco, Cappabianca Maria Pia, Salvati Anna Maria
Abstract excerpt
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X chromosome-linked hereditary enzymopathy in humans. The authors have developed an amplification refractory mutation system (ARMS) to detect the G6PD Mediterranean mutation (nt. 563 C-->T) that is the most frequent among Caucasian population. METHODS: Specific forward polymerase chain reaction (PCR) primers, within exon 6 of the G6PD...
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