Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia

Recent advances in DNA sequencing have enabled mapping of genes for monogenic traits in families with small pedigrees and even in unrelated cases. We report the identification of disease-causing mutations in a rare, severe, skeletal dysplasia, studying a family of two healthy unrelated parents and t...

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Detalles Bibliográficos
Autores principales: Glazov, Evgeny A., Zankl, Andreas, Donskoi, Marina, Kenna, Tony J., Thomas, Gethin P., Clark, Graeme R., Duncan, Emma L., Brown, Matthew A.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063761/
https://www.ncbi.nlm.nih.gov/pubmed/21455487
http://dx.doi.org/10.1371/journal.pgen.1002027

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