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Mutations in the po...
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
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Kalscheuer, Vera M (author)
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Freude, Kristine (author)
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Musante, Luciana (author)
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Jensen, Lars R (author)
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Yntema, Helger G (author)
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Gecz, Jozef (author)
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Sefiani, Abdelaziz (author)
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Hoffmann, Kirsten (author)
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Moser, Bettina (author)
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Haas, Stefan (author)
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Gurok, Ulf (author)
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Haesler, Sebastian (author)
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Aranda, Beatriz (author)
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Nshedjan, Arpik (author)
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Tzschach, Andreas (author)
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Hartmann, Nils (author)
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Roloff, Tim-Christoph (author)
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Shoichet, Sarah (author)
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Hagens, Oliver (author)
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Tao, Jiong (author)
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van Bokhoven, Hans (author)
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Turner, Gillian (author)
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Chelly, Jamel (author)
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Moraine, Claude (author)
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Fryns, Jean-Pierre (author)
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- Nuber, Ulrike (author)
- Lund University,Lunds universitet,Stamcellscentrum (SCC),Avdelningen för stamcellsforskning,Institutionen för laboratoriemedicin,Medicinska fakulteten,Stem Cell Center,Division of stem cell research,Department of Laboratory Medicine,Faculty of Medicine
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Hoeltzenbein, Maria (author)
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Scharff, Constance (author)
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Scherthan, Harry (author)
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Lenzner, Steffen (author)
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Hamel, Ben CJ (author)
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Schweigger, Susann (author)
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Ropers, Hans-Hilger (author)
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(creator_code:org_t)
- 2003-11-23
- 2003
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 35:4, s. 313-315
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http://dx.doi.org/10...
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https://pure.mpg.de/...
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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)
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Kalscheuer, Vera ...
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Freude, Kristine
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Musante, Luciana
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Jensen, Lars R
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Yntema, Helger G
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Gecz, Jozef
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show more...
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Sefiani, Abdelaz ...
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Hoffmann, Kirste ...
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Moser, Bettina
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Haas, Stefan
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Gurok, Ulf
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Haesler, Sebasti ...
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Aranda, Beatriz
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Nshedjan, Arpik
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Tzschach, Andrea ...
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Hartmann, Nils
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Roloff, Tim-Chri ...
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Shoichet, Sarah
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Hagens, Oliver
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Tao, Jiong
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van Bokhoven, Ha ...
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Turner, Gillian
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Chelly, Jamel
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Moraine, Claude
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Fryns, Jean-Pier ...
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Nuber, Ulrike
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Hoeltzenbein, Ma ...
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Scharff, Constan ...
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Scherthan, Harry
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Lenzner, Steffen
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Hamel, Ben CJ
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Schweigger, Susa ...
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Ropers, Hans-Hil ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
- Articles in the publication
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Nature Genetics
- By the university
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Lund University