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Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype
BACKGROUND: Transport protein particle (TRAPP) is a multiprotein complex involved in endoplasmic reticulum-to-Golgi trafficking. Zebrafish with a mutation in the TRAPPC11 orthologue showed hepatomegaly with steatosis and defects in visual system development. In humans, TRAPPC11 mutations have been r...
में बचाया:
| में प्रकाशित: | Skelet Muscle |
|---|---|
| मुख्य लेखकों: | , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2015
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4551700/ https://ncbi.nlm.nih.gov/pubmed/26322222 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13395-015-0056-4 |
| टैग : |
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