Article
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
Clinical genetics - 1 Oct 2004
Kleefstra T, Franken C E, Arens Y H J M, Ramakers G J A, Yntema H G, Sistermans E A, Hulsmans C F C H, Nillesen W N, van Bokhoven H, de Vries B B A, Hamel B C J
Abstract excerpt
Recently, the polyglutamine-binding protein 1 (PQBP1) gene was found to be mutated in five of 29 families studied with X-linked mental retardation (XLMR) linked to Xp. The reported mutations include duplications or deletions of AG dinucleotides in the fourth coding exon that resulted in shifts of the open reading frame. Three of the five families with mutations in this newly identified XLMR gene have been...
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