Literature DB >> 31518692

A de novo mutation in FMR1 in a patient with intellectual disability.

Sateesh Maddirevula1, Hessa S Alsaif1, Niema Ibrahim1, Fowzan S Alkuraya2.   

Abstract

Entities:  

Keywords:  Exome; Fragile-X; Intellectual disability; de novo

Year:  2019        PMID： 31518692     DOI： 10.1016/j.ejmg.2019.103763

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


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  2 in total

1.  Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.

Authors:  Cedrik Tekendo-Ngongang; Angela Grochowsky; Benjamin D Solomon; Sho T Yano
Journal:  Genes (Basel)       Date:  2021-10-22       Impact factor: 4.096

Review 2.  The Role of RNA Binding Proteins for Local mRNA Translation: Implications in Neurological Disorders.

Authors:  Maximilian Paul Thelen; Min Jeong Kye
Journal:  Front Mol Biosci       Date:  2020-01-15
  2 in total

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