Učitavanje...
NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations
OBJECTIVE: To perform genotype–phenotype analysis in an infant with congenital arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore the mechanism of pathogenicity using a Caenorhabditis elegans model. METHODS: We performed whole-exome sequencing in a preterm neonate...
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| Izdano u: | Neurology |
|---|---|
| Glavni autori: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Lippincott Williams & Wilkins
2016
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5027803/ https://ncbi.nlm.nih.gov/pubmed/27558372 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000003095 |
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