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Identification of a novel nonsense homozygous mutation of LINS1 gene in two sisters with intellectual disability, schizophrenia, and anxiety
BACKGROUND: LINS1 encodes the lines homolog 1 protein that contains the Drosophila lines homologous domain. LINS1 mutations cause a rare recessive form of intellectual disability. So far, eight LINS1 mutations were reported in the literature. METHODS: We conducted a whole-genome sequencing analysis...
Autores principales: | Chen, Chia-Hsiang, Huang, Yu-Shu, Fang, Ting-Hsuan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Chang Gung University
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8847845/ https://www.ncbi.nlm.nih.gov/pubmed/34450347 http://dx.doi.org/10.1016/j.bj.2021.08.003 |
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