Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

Mental retardation (MR) is characterized by cognitive impairment with an IQ <70. Many of the major causes are genetically determined and the ∼30% male excess suggests that mutations in genes carried on the X chromosome are disproportionably represented. One such gene, jumonji AT-rich interactive...

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Autori principali: Rujirabanjerd, Sinitdhorn, Nelson, John, Tarpey, Patrick S, Hackett, Anna, Edkins, Sarah, Raymond, F Lucy, Schwartz, Charles E, Turner, Gillian, Iwase, Shigeki, Shi, Yang, Futreal, P Andrew, Stratton, Michael R, Gecz, Jozef
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2010
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987212/
https://ncbi.nlm.nih.gov/pubmed/19826449
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.175
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