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A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition
Intellectual disability is a common and highly heterogeneous disorder etiologically. In a multiplex consanguineous family, we applied autozygosity mapping and exome sequencing and identified a novel homozygous truncating mutation in PUS3 that fully segregates with the intellectual disability phenoty...
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| Publicado no: | Hum Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5152754/ https://ncbi.nlm.nih.gov/pubmed/27055666 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1665-7 |
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