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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2930028/
https://ncbi.nlm.nih.gov/pubmed/20711175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.646
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