A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.

Mutations in the X-encoded gene ATRX are known to give rise to profound syndromal mental retardation (MR). Here, we describe a pedigree, including 4 affected family members with a 324C-->T nonsense mutation in the ATRX gene. Although 2 patients have moderate to profound MR and the typical fac...

Podrobná bibliografie
Hlavní autoři:	Guerrini, R, Shanahan, J, Carrozzo, R, Bonanni, P, Higgs, D, Gibbons, R
Médium:	Journal article
Jazyk:	English
Vydáno:	2000

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