Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

Dendritic spines represent the major site of neuronal activity in the brain; they serve as the receiving point for neurotransmitters and undergo rapid activity-dependent morphological changes that correlate with learning and memory. Using a combination of homozygosity mapping and next-generation seq...

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書誌詳細
出版年:Am J Hum Genet
主要な著者: Law, Rosalind, Dixon-Salazar, Tracy, Jerber, Julie, Cai, Na, Abbasi, Ansar A., Zaki, Maha S., Mittal, Kirti, Gabriel, Stacey B., Rafiq, Muhammad Arshad, Khan, Valeed, Nguyen, Maria, Ali, Ghazanfar, Copeland, Brett, Scott, Eric, Vasli, Nasim, Mikhailov, Anna, Khan, Muhammad Nasim, Andrade, Danielle M., Ayaz, Muhammad, Ansar, Muhammad, Ayub, Muhammad, Vincent, John B., Gleeson, Joseph G.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2014
主題:
Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4259997/
https://ncbi.nlm.nih.gov/pubmed/25480035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.10.016
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