Dissecting KMT2D missense mutations in Kabuki syndrome patients

Kabuki syndrome is a rare autosomal dominant condition characterized by facial features, various organs malformations, postnatal growth deficiency and intellectual disability. The discovery of frequent germline mutations in the histone methyltransferase KMT2D and the demethylase KDM6A revealed a cau...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Cocciadiferro, Dario, Augello, Bartolomeo, De Nittis, Pasquelena, Zhang, Jiyuan, Mandriani, Barbara, Malerba, Natascia, Squeo, Gabriella M, Romano, Alessandro, Piccinni, Barbara, Verri, Tiziano, Micale, Lucia, Pasqualucci, Laura, Merla, Giuseppe
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6488975/
https://ncbi.nlm.nih.gov/pubmed/30107592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy241
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