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Cooperating G6PD Mutations Associated with Severe Neonatal Hyperbilirubinemia and Cholestasis
We report a novel glucose-6-phosphate dehydrogenase (G6PD) mutation, which we propose to name G6PD Cincinnati (c.1037A>T, p.N346I), found in combination with G6PD Gastonia (c.637G>T, p.V213L) in an infant who presented with neonatal cholestasis. The G6PD Cincinnati mutation results in a non-co...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3023834/ https://ncbi.nlm.nih.gov/pubmed/20949590 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pbc.22744 |
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