Article
Mutations in the chromatin-associated protein ATRX.
Human mutation - 1 Jun 2008
Gibbons Richard J, Wada Takahito, Fisher Christopher A, Malik Nicola, Mitson Matthew J, Steensma David P, Fryer Alan, Goudie David R, Krantz Ian D, Traeger-Synodinos Joanne
Abstract excerpt
ATRX belongs to the SNF2 family of proteins, many of which have been demonstrated to have chromatin remodeling activity. Constitution mutations in the X-encoded gene give rise to alpha thalassemia mental retardation (ATR-X) syndrome and a variety of related conditions that are often associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Acquired mutations...
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