Abstract |
A new glucose-6-phosphate dehydrogenase (G6PD) variant with total deficiency associated with congenital nonspherocytic hemolytic anemia was found in a Costa Rican family. The study of the partially purified enzyme revealed thermal instability, increased G6P affinity, abnormal pH optimum, increased utilization of analogues, and a chromatographic behavior that differs from all the variants previously described. Thus, this new variant was designated G6PD Puerto Limón.
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Authors | J Elizondo, G F Sáenz, C A Páez, M Ramón, M García, A Gutiérrez, M Estrada |
Journal | Human genetics
(Hum Genet)
Vol. 62
Issue 2
Pg. 110-2
( 1982)
ISSN: 0340-6717 [Print] Germany |
PMID | 7160841
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Glucosephosphate Dehydrogenase
|
Topics |
- Adult
- Anemia, Hemolytic, Congenital
(genetics)
- Anemia, Hemolytic, Congenital Nonspherocytic
(genetics)
- Costa Rica
- Electrophoresis, Starch Gel
- Genetic Variation
- Glucosephosphate Dehydrogenase
(genetics)
- Glucosephosphate Dehydrogenase Deficiency
(genetics)
- Humans
- Male
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