Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

Autor: 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.

Publikováno v: Clinical Genetics, 66(4), 318-326. Wiley-Blackwell
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 2004, ' Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1) ', Clinical Genetics, vol. 66, no. 4, pp. 318-326 . https://doi.org/10.1111/j.1399-0004.2004.00308.x

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 th

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