A Case of G-6-PD Guadalajara / 소아과
Korean Journal of Pediatrics
;
: 210-213, 2004.
Article
in Korean
| WPRIM
| ID: wpr-125110
ABSTRACT
Glucose-6-phosphate dehydrogenase(G-6-PD) deficiency is a disease that shows hemolytic anemia and jaundice caused by injury of erythrocytes. The gene of G-6-PD has 13 exons and locates in Xq28, and over 150 mutations of this gene have been reported. We experienced a G-6-PD deficienct male patient who was suffering hemolytic anemia and jaundice confirmed by measuring low G-6-PD activity in the erythrocytes. We found point mutation at 1159th nucleotide in 10th exon, cytosine was changed to thymidine, and was confirmed as G-6-PD Guadalajara.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Thymidine
/
Exons
/
Point Mutation
/
Glucose-6-Phosphate
/
Cytosine
/
Erythrocytes
/
Anemia, Hemolytic
/
Jaundice
Limits:
Humans
/
Male
Language:
Korean
Journal:
Korean Journal of Pediatrics
Year:
2004
Type:
Article
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