Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
about
The role of PHD2 mutations in the pathogenesis of erythrocytosis.Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics.An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.Hb Heathrow [β103(G5)Phe→Leu], a First Report in an Asian Patient with Erythrocytosis.Erythrocytosis associated with a novel missense mutation in the BPGM gene.First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey.New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis.Myelodysplastic Syndrome/Acute Myeloid Leukemia Arising in Idiopathic Erythrocytosis.
P2860
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P2860
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
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Molecular study of congenital ...... is/are the missing gene(s)?).
@en
Molecular study of congenital ...... in less than half of the cases
@nl
type
label
Molecular study of congenital ...... is/are the missing gene(s)?).
@en
Molecular study of congenital ...... in less than half of the cases
@nl
prefLabel
Molecular study of congenital ...... is/are the missing gene(s)?).
@en
Molecular study of congenital ...... in less than half of the cases
@nl
P2093
P2860
P50
P356
P1476
Molecular study of congenital ...... is/are the missing gene(s)?).
@en
P2093
Ana C Oliveira
Ana L Araújo
Ascension Aguado-Diaz
Carlos Fernandez-Lago
Cédric Rossi
François Girodon
Guillermo Martin-Nuñez
Helena Almeida
Helena Vitória
João Silva
P2860
P304
P356
10.1111/EJH.12170
P577
2013-08-20T00:00:00Z