Two distinct Indian G6PD variants G6PD Jamnagar and G6PD Rohini caused by the same 949 G-->A mutation.

doi:10.1016/j.bcmd.2005.03.001

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Article

Two distinct Indian G6PD variants G6PD Jamnagar and G6PD Rohini caused by the same 949 G-->A mutation.

Blood cells, molecules & diseases - 1 Jan 2000

Sukumar Sridevi, Mukherjee Malay B, Colah Roshan B, Mohanty Dipika

Abstract excerpt

Earlier we have reported two G6PD variants viz.; G6PD Jamnagar and G6PD Rohini. The enzymes from both the variants showed altered biochemical properties with mild enzyme deficiency and were classified as unique Class III variants. G6PD Jamnagar was found to be associated with drug-induced hemolytic anemia whereas G6PD Rohini was picked up during a population survey. Subsequent molecular studies on the DNA from...

Topics

Adolescent
Anemia, Hemolytic
Electrophoresis
Enzyme Stability
Genetic Variation
Glucosephosphate Dehydrogenase
Glucosephosphate Dehydrogenase Deficiency
Humans
Hydrogen-Ion Concentration
India
Kinetics
Male
Middle Aged
Point Mutation

Source

Open in PubMed

Identifiers

PMID: 15996881
DOI: 10.1016/j.bcmd.2005.03.001

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