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...

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Bibliografiska uppgifter
Huvudupphovsmän:	Guerrini, R, Shanahan, J, Carrozzo, R, Bonanni, P, Higgs, D, Gibbons, R
Materialtyp:	Journal article
Språk:	English
Publicerad:	2000

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av: Nan, X, et al.
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av: Gibbons, R, et al.
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av: Picketts, D, et al.
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