Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

We demonstrate the successful application of exome sequencing1–3 to discover a gene for an autosomal dominant disorder, Kabuki syndrome (OMIM %147920). The exomes of ten unrelated probands were subjected to massively parallel sequencing. After filtering against SNP databases, there was no compelling...

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Detalles Bibliográficos
Autores principales: Ng, Sarah B., Bigham, Abigail W., Buckingham, Kati J., Hannibal, Mark C., McMillin, Margaret, Gildersleeve, Heidi, Beck, Anita E., Tabor, Holly K., Cooper, Greg M., Mefford, Heather C., Lee, Choli, Turner, Emily H., Smith, Josh D., Rieder, Mark J., Yoshiura, Koh-ichiro, Matsumoto, Naomichi, Ohta, Tohru, Niikawa, Norio, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay
Formato: Texto
Lenguaje:English
Publicado: 2010
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2930028/
https://www.ncbi.nlm.nih.gov/pubmed/20711175
http://dx.doi.org/10.1038/ng.646

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