p.R270X MECP2 mutation and mortality in Rett syndrome

p.R270X MECP2 mutation and mortality in Rett syndrome

Among cases in the Australian Rett Syndrome Database, the nonsense mutation p.R270X is one of the most commonly occurring single pathogenic MECP2 mutations. In two recent published reports of the MECP2 mutational spectrum the p.R270X appeared to be under represented. We hypothesised that increased m...

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Bibliographic Details
Main Authors: Jian, Le, Archer, H., Ravine, D., Kerr, A., De Klerk, N., Christodoulou, J., Bailey, M.
Format: Journal Article
Published: Nature Publishing Group 2005
Subjects:
Rett syndrome
MECP2 mutations
p.R270X
mortality
Online Access:http://hdl.handle.net/20.500.11937/17865

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