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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2010
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars