Laddar...
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...
Sparad:
| Huvudupphovsmän: | , , , , , , |
|---|---|
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
BMJ Group
2005
|
| Ämnen: | |
| Länkar: | 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 |
| Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|