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Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
- Kalscheuer, Vera M (author)
- Freude, Kristine (author)
- Musante, Luciana (author)
- show more...
- Jensen, Lars R (author)
- Yntema, Helger G (author)
- Gecz, Jozef (author)
- Sefiani, Abdelaziz (author)
- Hoffmann, Kirsten (author)
- Moser, Bettina (author)
- Haas, Stefan (author)
- Gurok, Ulf (author)
- Haesler, Sebastian (author)
- Aranda, Beatriz (author)
- Nshedjan, Arpik (author)
- Tzschach, Andreas (author)
- Hartmann, Nils (author)
- Roloff, Tim-Christoph (author)
- Shoichet, Sarah (author)
- Hagens, Oliver (author)
- Tao, Jiong (author)
- van Bokhoven, Hans (author)
- Turner, Gillian (author)
- Chelly, Jamel (author)
- Moraine, Claude (author)
- Fryns, Jean-Pierre (author)
- Hoeltzenbein, Maria (author)
- Scharff, Constance (author)
- Scherthan, Harry (author)
- Lenzner, Steffen (author)
- Hamel, Ben CJ (author)
- Schweigger, Susann (author)
- Ropers, Hans-Hilger (author)
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- (creator_code:org_t)
- 2003-11-23
- 2003
- English.
- In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 35:4, s. 313-315
- Journal article (peer-reviewed)
Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
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- ref (subject category)
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- Kalscheuer, Vera ...
- Freude, Kristine
- Musante, Luciana
- Jensen, Lars R
- Yntema, Helger G
- Gecz, Jozef
- show more...
- Sefiani, Abdelaz ...
- Hoffmann, Kirste ...
- Moser, Bettina
- Haas, Stefan
- Gurok, Ulf
- Haesler, Sebasti ...
- Aranda, Beatriz
- Nshedjan, Arpik
- Tzschach, Andrea ...
- Hartmann, Nils
- Roloff, Tim-Chri ...
- Shoichet, Sarah
- Hagens, Oliver
- Tao, Jiong
- van Bokhoven, Ha ...
- Turner, Gillian
- Chelly, Jamel
- Moraine, Claude
- Fryns, Jean-Pier ...
- Nuber, Ulrike
- Hoeltzenbein, Ma ...
- Scharff, Constan ...
- Scherthan, Harry
- Lenzner, Steffen
- Hamel, Ben CJ
- Schweigger, Susa ...
- Ropers, Hans-Hil ...
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- MEDICAL AND HEALTH SCIENCES
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- Lund University
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