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...

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Detalles Bibliográficos
Autores principales: Chen, Chia-Hsiang, Huang, Yu-Shu, Fang, Ting-Hsuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chang Gung University 2021
Materias:
Brief Communication
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

Internet

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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