EPOR mutation and pedigree of the polycythemic family.
- Silverio Perrotta (193959)
- Valeria Cucciolla (362772)
- Marcella Ferraro (362773)
- Luisa Ronzoni (362774)
- Annunziata Tramontano (193954)
- Francesca Rossi (119260)
- Anna Chiara Scudieri (362775)
- Adriana Borriello (193935)
- Domenico Roberti (362776)
- Bruno Nobili (362777)
- Maria Domenica Cappellini (77687)
- Adriana Oliva (193967)
- Giovanni Amendola (362779)
- Anna Rita Migliaccio (362780)
- Patrizia Mancuso (362781)
- Ines Martin-Padura (216363)
- Francesco Bertolini (216385)
- Donghoon Yoon (362783)
- Josef T. Prchal (362784)
- Fulvio Della Ragione (193964)
Publication date
February 2013
DOIAbstract
<p><b>Panel A</b>. The panel shows nucleotides 1242–1270 (exon 8) of the <i>EPOR</i> gene. A heterozygous <i>G1251</i><b>→</b><i>T</i> mutation was detected in the propositus P1. The same mutation was verified in all the subjects affected by erythrocytosis (P1, P3, P4, and P5). <b>Panel B</b>. Pedigree of the family with dominant familial erythrocytosis is shown. Squares represent males, circles represent females, and Ps represent the subjects that were genotyped. P1, P3, P4, and P5 are the subjects affected by congenital polycythemia.</p
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