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

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Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.

Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to be a C----G substitution in codon 108; this eliminates a MaeII restriction site.[1]

References

  1. Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level. Schnee, J., Aulehla-Scholz, C., Eigel, A., Horst, J. Hum. Genet. (1990) [Pubmed]
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