Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.

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作者： Jayesh,Sheth ^[1] ; Gyan,Ranjan ^[2] ; Krati,Shah ^[1] ; Riddhi,Bhavsar ^[1] ; Frenny,Sheth ^[1]

作者单位： FRIGE's Institute of Human Genetics, Ahmedabad, Gujarat, India. ^[1] Department of Genetic Engineering, SRM University, Kattankulathur, Tamil Nadu, India. ^[2]

关键词 LINS1 gene WNT1 gene intellectual disability mutism neuron differentiation

主题词碱基序列(Base Sequence);家庭(Family);女(雌)性(Female);基因表达(Gene Expression);杂合子(Heterozygote);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);纯合子(Homozygote);人类(Humans);男(雄)性(Male);模型, 分子(Models, Molecular);突变, 误义(Mutation, Missense);缄默症(Mutism);系谱(Pedigree);多态性, 限制性片段长度(Polymorphism, Restriction Fragment Length);蛋白质结构, 二级(Protein Structure, Secondary);蛋白质类(Proteins);青年人(Young Adult)

DOI 10.1002/ajmg.a.38089

PMID 28181389

发布时间 2021-01-15

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American journal of medical genetics. Part A

2017年173卷4期

1041-1046页

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Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.

American journal of medical genetics. Part A

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American journal of medical genetics. Part A

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Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.

American journal of medical genetics. Part A

相似文献

American journal of medical genetics. Part A

相关期刊

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