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  Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Kalscheuer, V. M., Freude, K., Musante, L., Jensen, L. R., Yntema, H. G., Gecz, J., et al. (2003). Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics, 35(4), 313-315. doi:10.1038/ng1264.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8953-D Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8954-B
Genre: Journal Article
Alternative Title : Nature Genet.

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 Creators:
Kalscheuer, Vera M.1, Author              
Freude, Kristine2, Author
Musante, Luciana3, Author              
Jensen, Lars R.4, Author              
Yntema, Helger G., Author
Gecz, Jozef, Author
Sefiani, Abdelaziz, Author
Hoffmann, Kirsten2, Author
Moser, Bettina2, Author
Haas, Stefan5, Author              
Gurok, Ulf2, Author
Haesler, Sebastian6, Author              
Aranda, Beatriz6, Author              
Nshedjan, Arpik2, Author
Tzschach, Andreas6, Author              
Hartmann, Nils2, Author
Roloff, Tim-Christoph2, Author
Shoichet, Sarah2, Author
Hagens, Olivier6, Author              
Tao, Jiong2, Author
van Bokhoven, Hans, AuthorTurner, Gillian, AuthorChelly, Jamel, AuthorMoraine, Claude, AuthorFryns, Jean-Pierre, AuthorNuber, Ulrike6, Author              Hoeltzenbein, Maria2, AuthorScharff, Constance6, Author              Scherthan, Harry6, Author              Lenzner, Steffen2, AuthorHamel, Ben C. J., AuthorSchweiger, Susann6, Author              Ropers, Hans-Hilger6, Author               more..
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
2Max Planck Society, ou_persistent13              
3Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
4Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
5Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479640              
6Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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 Abstract: We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.

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Language(s): eng - English
 Dates: 2003-12
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 127750
ISI: 000186791000010
DOI: 10.1038/ng1264
 Degree: -

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Title: Nature Genetics
  Alternative Title : Nature Genet.
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 35 (4) Sequence Number: - Start / End Page: 313 - 315 Identifier: ISSN: 1061-4036