Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

We have used genome-wide genotyping to identify an overlapping homozygosity-by-descent locus on chromosome 9q34.3 (MRT15) in four consanguineous families affected by nonsyndromic autosomal-recessive intellectual disability (NS-ARID) and one in which the patients show additional clinical features. Fo...

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Main Authors: Rafiq, Muhammad Arshad, Kuss, Andreas W., Puettmann, Lucia, Noor, Abdul, Ramiah, Annapoorani, Ali, Ghazanfar, Hu, Hao, Kerio, Nadir Ali, Xiang, Yong, Garshasbi, Masoud, Khan, Muzammil Ahmad, Ishak, Gisele E., Weksberg, Rosanna, Ullmann, Reinhard, Tzschach, Andreas, Kahrizi, Kimia, Mahmood, Khalid, Naeem, Farooq, Ayub, Muhammad, Moremen, Kelley W., Vincent, John B., Ropers, Hans Hilger, Ansar, Muhammad, Najmabadi, Hossein
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3135808/
https://ncbi.nlm.nih.gov/pubmed/21763484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.06.006
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