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De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
To identify further Mendelian causes of intellectual disability (ID), we screened a cohort of 996 individuals with ID for variants in 565 known or candidate genes by using a targeted next-generation sequencing approach. Seven loss-of-function (LoF) mutations—four nonsense (c.1195A>T [p.Lys399(∗)]...
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Autors principals: | , , , , , , , , , , , , , , |
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Format: | Artigo |
Idioma: | Inglês |
Publicat: |
Elsevier
2014
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Matèries: | |
Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3980521/ https://ncbi.nlm.nih.gov/pubmed/24680889 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.03.006 |
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