Development of a Genomic DNA Reference Material Panel for Rett Syndrome (MECP2-Related Disorders) Genetic Testing

Rett syndrome is a dominant X-linked disorder caused by point mutations (approximately 80%) or by deletions or insertions (approximately 15% to 18%) in the MECP2 gene. It is most common in females but lethal in males, with a distinctly different phenotype. Rett syndrome patients have severe neurolog...

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Detalhes bibliográficos
Main Authors: Kalman, Lisa V., Tarleton, Jack C., Percy, Alan K., Aradhya, Swaroop, Bale, Sherri, Barker, Shannon D., Bayrak-Toydemir, Pinar, Bridges, Christina, Buller-Burckle, Arlene M., Das, Soma, Iyer, Ramaswamy K., Vo, Timothy D., Zvereff, Val V., Toji, Lorraine H.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2014
Assuntos:
Regular Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3937532/
https://ncbi.nlm.nih.gov/pubmed/24508304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2013.11.004
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