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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6927d6b4781e215642d08977e1921351
https://research.vumc.nl/en/publications/bb0b6e1a-db4d-4a5a-880b-8246dfad52d3

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.

Autor: Kleefstra T, Yntema HG, Oudakker AR, Banning MJ, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, de Vries LB, Hamel BC, van Bokhoven H

Publikováno v: Journal of medical genetics [J Med Genet] 2004 May; Vol. 41 (5), pp. 394-9.

Familial Angelman syndrome with a crossover in the critical deletion region.

Autor: Nelen MR; Department of Human Genetics, University Hospital Nijmegen, The Netherlands., Van der Burgt CJ, Nillesen WN, Vis A, Smeets HJ

Publikováno v: American journal of medical genetics [Am J Med Genet] 1994 Sep 01; Vol. 52 (3), pp. 352-7.