A Novel Microduplication of ARID1B: Clinical, Genetic and Proteomic Findings

Genetic alterations of ARID1B have been recently recognized as one of the most common mendelian causes of intellectual disability and are associated with both syndromic and non-syndromic phenotypes. The ARID1B protein, a subunit of the chromatin remodeling complex SWI/SNF-A, is involved in the regul...

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Bibliografiset tiedot
Julkaisussa:Am J Med Genet A
Päätekijät: Seabra, Catarina M., Szoko, Nicholas, Erdin, Serkan, Ragavendran, Ashok, Stortchevoi, Alexei, Maciel, Patrícia, Lundberg, Kathleen, Schlatzer, Daniela, Smith, Janice, Talkowski, Michael E., Gusella, James F., Natowicz, Marvin R.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2017
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5561488/
https://ncbi.nlm.nih.gov/pubmed/28691782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38327
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