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Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

Pubmed ID: 
16905679
Year: 
2007
Month: 
Feb
Volume: 
44
Issue: 
2
Citation: 
Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, De Klerk N, Clarke A. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. JOURNAL OF MEDICAL GENETICS 44 (2) : 148 - 52(2007) PubMed