Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

Autor: J. Graveline, H. Heilbronner, Rick A. Friedman, J.T. den Dunnen, Lorne S. Parnes, P. Thorpe, F. P. M. Cremers, Erik R. Vossenaar, Ling Jia Hu, Niklas Dahl, H.H. Ropers, H.-J. Pander, Didier Lacombe, Cor W. R. J. Cremers, Y.J.M. de Kok, Han G. Brunner, M. Bitner-Glindzicz, Nathan Fischel-Ghodsian, Jocelyn Laporte

Publikováno v: Human Molecular Genetics, 5, 1229-1235
Human Molecular Genetics, 5, 9, pp. 1229-1235
Human Molecular Genetics
Human Molecular Genetics, 1996, 5 (9), pp.1229-1235. ⟨10.1093/hmg/5.9.1229⟩

Small mutations in the POU domain gene POU3F4 were recently shown to cause X-linked deafness type 3 (DFN3) in nine unrelated males. The POU3F4 gene was found to be located outside four of five deletions associated with DFN3. Two of these deletions we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd5e13e62dfba3cc710910af17d4bb8
https://hdl.handle.net/2066/24064

A novel ribosomal S6-kinase (RSK4;RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation

Autor: J.H.L.M. van Bokhoven, Claude Moraine, H. Heilbronner, J. Kissing, J. P. Fryns, Jamel Chelly, H.G. Brunner, F.P.M. Cremers, G. van Duijnhoven, H.H. Ropers, F. Poppelaars, L.J.M. van den Helm, B.C.J. Hamel, H.-J. Pander, Helger G. Yntema

Publikováno v: Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 62, pp. 332-343
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 62, 332-343

Large deletions in Xq21 often are associated with contiguous gene syndromes consisting of X-linked deafness type 3 (DFN3), mental retardation (MRX), and choroideremia (CHM). The identification of deletions associated with classic CHM or DFN3 facilita

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a27df56396bf4c1e04e07eee5fbfb16b
https://hdl.handle.net/2066/166976

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.