Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases
Abstract Congenital erythrocytosis (CE) represents a rare and heterogeneous group of hereditary disorders. The molecular basis of VHL gene mutations related to CE. Recently, Lenglet et al. reported a discovery of a novel cryptic exon in the VHL gene. Mutations in the first intronic region resulting...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
Wiley
2022-08-01
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| Sraith: | eJHaem |
| Ábhair: | |
| Rochtain ar líne: | https://doi.org/10.1002/jha2.490 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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