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...
| Auteurs principaux: | , , , , , |
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| Format: | Journal article |
| Langue: | English |
| Publié: |
2000
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