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Korean J Hematol. 1999 May;34(2):334-337. Korean. Case Report.
Park SW , Lee HJ , Lee W , Whang KT .
Department of Pediatrics, Holy Family Hospital, Catholic University Medical College, Seoul, Korea.

A glucose-6-phoshate dehydrogenase variant called G6PD Riley was detected in an Korean boy with nonspherocytic hemolytic anemia. Using polymerase chain reaction based single-strand conformation polymorphism (PCR-SSCP) followed by DNA sequence analysis, we found mutation T to C at nucleotide 1139 in exon 10, resulting in a substitution of 380th amino acid isoleucine to threonine. The patient's mother was confirmed to be a heterozygote.

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