A Case of Glucose-6-phosphate dehydrogenase Riley Causing Hemolytic Anemia / 대한혈액학회지
Korean Journal of Hematology
;
: 334-337, 1999.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Oxidorreductasas
/
Treonina
/
Reacción en Cadena de la Polimerasa
/
Exones
/
Análisis de Secuencia de ADN
/
Glucosa-6-Fosfato
/
Glucosafosfato Deshidrogenasa
/
Heterocigoto
/
Anemia Hemolítica
/
Isoleucina
Límite:
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Hematology
Año:
1999
Tipo del documento:
Artículo
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