Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 1999 |
| Outros Autores: | , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da UFBA |
| Texto Completo: | http://repositorio.ufba.br/ri/handle/ri/13482 |
Resumo: | Texto completo. Acesso restrito. p. 1661–1669 |
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Balemans, WendyEnde, Jenneke Van DenAlves, Auristela Freire PaesDikkers, Frederik G.Willems, Patrick J.Vanhoenacker, FilipMelo, Neli Almeida deAlves, Cristiane FreireStratakis, Constantine A.Hill, Suvimol C.Hul, Wim VanBalemans, WendyEnde, Jenneke Van DenAlves, Auristela Freire PaesDikkers, Frederik G.Willems, Patrick J.Vanhoenacker, FilipMelo, Neli Almeida deAlves, Cristiane FreireStratakis, Constantine A.Hill, Suvimol C.Hul, Wim Van2013-11-01T11:57:18Z19991434-5161http://repositorio.ufba.br/ri/handle/ri/13482v. 64, n. 6Texto completo. Acesso restrito. p. 1661–1669Sclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. In most patients this causes facial paralysis and hearing loss. Other features are gigantism and hand abnormalities. In the present study, linkage analysis in two consanguineous families with sclerosteosis resulted in the assignment of the sclerosteosis gene to chromosome 17q12-q21. This region was analyzed because of the recent assignment to this chromosomal region of the gene causing van Buchem disease, a rare autosomal recessive condition with a hyperostosis similar to sclerosteosis. Because of the clinical similarities between sclerosteosis and van Buchem disease, it has previously been suggested that both conditions might be caused by mutations in the same gene. Our study now provides genetic evidence for this hypothesis.Submitted by Santiago Fabio (fabio.ssantiago@hotmail.com) on 2013-07-31T18:06:01Z No. of bitstreams: 1 111111111a.pdf: 683501 bytes, checksum: 978acc94ebde8e6074df25c384a75ff8 (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-11-01T11:57:18Z (GMT) No. of bitstreams: 1 111111111a.pdf: 683501 bytes, checksum: 978acc94ebde8e6074df25c384a75ff8 (MD5)Made available in DSpace on 2013-11-01T11:57:18Z (GMT). No. of bitstreams: 1 111111111a.pdf: 683501 bytes, checksum: 978acc94ebde8e6074df25c384a75ff8 (MD5) Previous issue date: 1999SalvadorJournal of Human Geneticshttp://dx.doi.org.ez10.periodicos.capes.gov.br/10.1086/302416reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBASclerosteosisvan Buchem diseaseHyperostosisChromosome 17Bone densityLocalization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21Journal of Human Geneticsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengORIGINAL111111111a.pdf111111111a.pdfapplication/pdf683501https://repositorio.ufba.br/bitstream/ri/13482/1/111111111a.pdf978acc94ebde8e6074df25c384a75ff8MD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/13482/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXT111111111a.pdf.txt111111111a.pdf.txtExtracted texttext/plain30595https://repositorio.ufba.br/bitstream/ri/13482/3/111111111a.pdf.txt6ad212722b92e7668821e97ffa9e139cMD53ri/134822022-09-23 09:16:14.094oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-09-23T12:16:14Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false |
| dc.title.pt_BR.fl_str_mv |
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 |
| dc.title.alternative.pt_BR.fl_str_mv |
Journal of Human Genetics |
| title |
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 |
| spellingShingle |
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 Balemans, Wendy Sclerosteosis van Buchem disease Hyperostosis Chromosome 17 Bone density |
| title_short |
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 |
| title_full |
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 |
| title_fullStr |
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 |
| title_full_unstemmed |
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 |
| title_sort |
Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 |
| author |
Balemans, Wendy |
| author_facet |
Balemans, Wendy Ende, Jenneke Van Den Alves, Auristela Freire Paes Dikkers, Frederik G. Willems, Patrick J. Vanhoenacker, Filip Melo, Neli Almeida de Alves, Cristiane Freire Stratakis, Constantine A. Hill, Suvimol C. Hul, Wim Van |
| author_role |
author |
| author2 |
Ende, Jenneke Van Den Alves, Auristela Freire Paes Dikkers, Frederik G. Willems, Patrick J. Vanhoenacker, Filip Melo, Neli Almeida de Alves, Cristiane Freire Stratakis, Constantine A. Hill, Suvimol C. Hul, Wim Van |
| author2_role |
author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Balemans, Wendy Ende, Jenneke Van Den Alves, Auristela Freire Paes Dikkers, Frederik G. Willems, Patrick J. Vanhoenacker, Filip Melo, Neli Almeida de Alves, Cristiane Freire Stratakis, Constantine A. Hill, Suvimol C. Hul, Wim Van Balemans, Wendy Ende, Jenneke Van Den Alves, Auristela Freire Paes Dikkers, Frederik G. Willems, Patrick J. Vanhoenacker, Filip Melo, Neli Almeida de Alves, Cristiane Freire Stratakis, Constantine A. Hill, Suvimol C. Hul, Wim Van |
| dc.subject.por.fl_str_mv |
Sclerosteosis van Buchem disease Hyperostosis Chromosome 17 Bone density |
| topic |
Sclerosteosis van Buchem disease Hyperostosis Chromosome 17 Bone density |
| description |
Texto completo. Acesso restrito. p. 1661–1669 |
| publishDate |
1999 |
| dc.date.issued.fl_str_mv |
1999 |
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2013-11-01T11:57:18Z |
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info:eu-repo/semantics/publishedVersion |
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1434-5161 |
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v. 64, n. 6 |
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1434-5161 v. 64, n. 6 |
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Journal of Human Genetics |
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Journal of Human Genetics |
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http://dx.doi.org.ez10.periodicos.capes.gov.br/10.1086/302416 |
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