Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia
about
RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling.Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.Genetic basis of congenital erythrocytosis: mutation update and online databases.The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension.
P2860
Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 17 June 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Novel compound VHL heterozygos ...... with congenital polycythaemia
@en
Novel compound VHL heterozygosity
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type
label
Novel compound VHL heterozygos ...... with congenital polycythaemia
@en
Novel compound VHL heterozygosity
@nl
prefLabel
Novel compound VHL heterozygos ...... with congenital polycythaemia
@en
Novel compound VHL heterozygosity
@nl
P2093
P2860
P356
P1476
Novel compound VHL heterozygos ...... with congenital polycythaemia
@en
P2093
Chunzhang Yang
Felipe R Lorenzo
Josef T Prchal
Linda Butros
Lucie Lanikova
Zhengping Zhuang
P2860
P304
P356
10.1111/BJH.12431
P407
P577
2013-06-17T00:00:00Z