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

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization

Autor: Koolen, D. A., Vissers, L. E.L.M., Nillesen, W., Smeets, D., van Ravenswaaij, C. M.A., Sistermans, E. A., Veltman, J. A., de Vries, Bert D.A.

Publikováno v: Clinical Genetics, 65, 429-32
Clinical Genetics, 65, 5, pp. 429-32
Clinical Genetics, 65(5), 429-432. Wiley-Blackwell
Koolen, D A, Vissers, L E L M, Nillesen, W, Smeets, D, van Ravenswaaij, C M A, Sistermans, E A, Veltman, J A & de Vries, B D A 2004, ' A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization ', Clinical Genetics, vol. 65, no. 5, pp. 429-432 . https://doi.org/10.1111/j.0009-9163.2004.00245.x

Contains fulltext : 57198.pdf (Publisher’s version ) (Closed access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3e9c06797053098773bc600fcfb3ca50
http://hdl.handle.net/2066/57198

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