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Identification of a single base change in a new human mutant glucose-6-phosphate dehydrogenase gene by polymerase-chain-reaction amplification of the entire coding region from genomic DNA.

We report the characterization at the molecular level of a mutant glucose-6-phosphate dehydrogenase (G6PD) gene in a Greek boy who presented with a chronic non-spherocytic haemolytic anaemia. In order to identify the mutation from a small amount of patient material, we adopted an approach which by-p...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Poggi, V, Town, M, Foulkes, N S, Luzzatto, L
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1990
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1149526/
https://ncbi.nlm.nih.gov/pubmed/2222408
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