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Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder
Background: Peroxisome biogenesis disorders (PBDs) may have a variable clinical expression, ranging from severe, lethal to mild phenotypes with progressive evolution. PBDs are autosomal recessive disorders caused by mutations in PEX genes, which encode proteins called peroxins, involved in the assem...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5509555/ https://ncbi.nlm.nih.gov/pubmed/27557811 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_10 |
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