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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Detaylı Bibliyografya
Yayımlandı:Am J Hum Genet
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2014
Konular:
Report
Online Erişim: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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