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Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development
Single-nucleotide mutations in human SIX1 result in amino acid substitutions in either the protein-protein interaction domain or the homeodomain, and cause ∼4% of branchio-otic (BOS) and branchio-oto-renal (BOR) cases. The phenotypic variation between patients with the same mutation, even within aff...
Kaydedildi:
| Yayımlandı: | Dis Model Mech |
|---|---|
| Asıl Yazarlar: | , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
The Company of Biologists Ltd
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7063838/ https://ncbi.nlm.nih.gov/pubmed/31980437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.043489 |
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