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Divergent phenotypes in Gaucher disease implicate the role of modifiers
Background: Gaucher disease is classified into neuronopathic and non-neuronopathic forms with wide phenotypic variation among patients sharing the same genotype. While homozygosity for the common L444P allele usually correlates with the neuronopathic forms, how a defined genotype leads to a phenotyp...
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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1736082/ https://ncbi.nlm.nih.gov/pubmed/15937077 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.028019 |
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