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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome.

A patient with chronic hemolytic anemia and G6PD deficiency was noted to be severely jaundiced and to have a high serum ferritin level. Analysis of his DNA revealed only heterozygosity for the c.187 C-->G (H63D) mutation of HFE, but showed that he was homozygous for the UDP glucuronosyltransferase promoter mutation of Gilbert's disease and that he had a previously undescribed mutation of G6PD, c.832 T-->C (Ser278Pro). The new variant was named G6PD La Jolla.[1]

References

  1. Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome. Beutler, E., Gelbart, T., Miller, W. Blood Cells Mol. Dis. (2002) [Pubmed]
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