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. 2013 Sep;98(9):e101-2.
doi: 10.3324/haematol.2013.090175. Epub 2013 Jun 28.

Infrequent occurrence of mutations in the PH domain of LNK in patients with JAK2 mutation-negative 'idiopathic' erythrocytosis

Ambra Spolverini, Lisa Pieri, Paola Guglielmelli, Alessandro Pancrazzi, Tiziana Fanelli, Chiara Paoli, Alberto Bosi, Ilaria Nichele, Marco Ruggeri, Alessandro M Vannucchi

Infrequent occurrence of mutations in the PH domain of LNK in patients with JAK2 mutation-negative 'idiopathic' erythrocytosis

Ambra Spolverini et al. Haematologica. 2013 Sep.
No abstract available

Keywords: Epo levels; PH domain; mutations.

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Figures

Figure 1.
Figure 1.
Top line shows mutated and corresponding wt sequence of exon 2 mutations E208Q (A), P155L (B) and S213R (C). Panels D and E represent the HRMA analysis of the patient with 820A>G substitution; shown are both the normalized graph of fluorescence versus temperature rising (D) and the difference graph curves normalized versus the rs3184504 T/T genotype (E); this exon 3 T274A mutation was confirmed by direct sequencing (F).
See this image and copyright information in PMC

References

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