Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

The conventional approach to identifying the defective gene in a family with an inherited disease is to find the disease locus through family studies. However, the rapid development and decreasing cost of next generation sequencing facilitates a more direct approach. Here, we report the identificati...

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Detalles Bibliográficos
Autores principales: Poulter, James A, El-Sayed, Walid, Shore, Roger C, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865405/
https://www.ncbi.nlm.nih.gov/pubmed/23632796
http://dx.doi.org/10.1038/ejhg.2013.76

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865405/
https://www.ncbi.nlm.nih.gov/pubmed/23632796
http://dx.doi.org/10.1038/ejhg.2013.76

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