A Case of Glucose-6-phosphate dehydrogenase Riley Causing Hemolytic Anemia / 대한혈액학회지
Korean Journal of Hematology
;
: 334-337, 1999.
Article
in Korean
| WPRIM
| ID: wpr-720906
ABSTRACT
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Oxidoreductases
/
Threonine
/
Polymerase Chain Reaction
/
Exons
/
Sequence Analysis, DNA
/
Glucose-6-Phosphate
/
Glucosephosphate Dehydrogenase
/
Heterozygote
/
Anemia, Hemolytic
/
Isoleucine
Limits:
Humans
/
Male
Language:
Korean
Journal:
Korean Journal of Hematology
Year:
1999
Type:
Article
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