MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78( )patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus. MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutati...

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Detalhes bibliográficos
Main Authors: Imessaoudene, B., Bonnefont, J., Royer, G., Cormier-Daire, V., Lyonnet, S., Lyon, G., Munnich, A., Amiel, J.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2001
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734835/
https://ncbi.nlm.nih.gov/pubmed/11238684
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.3.171
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