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Genetic analysis of a congenital split-hand/split-foot malformation 4 pedigree
In the present study whole-exome sequencing using the Complete Genomics platform was employed to scan a proband from a split-hand/split-foot malformation (SHFM) 4 family. The missense mutation c.728G>A (p.Arg243Gln) in the TP63 gene was revealed to be associated with SHFM. Sanger sequencing confi...
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| Publicado en: | Mol Med Rep |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
D.A. Spandidos
2018
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5983954/ https://ncbi.nlm.nih.gov/pubmed/29620206 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2018.8838 |
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