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Author | dc.contributor.author | Amenabar, F. | |
Author | dc.contributor.author | Jorquera, H. | |
Author | dc.contributor.author | Acuña, M. | |
Author | dc.contributor.author | Cifuentes, Lucia | |
Admission date | dc.date.accessioned | 2019-03-11T12:57:30Z | |
Available date | dc.date.available | 2019-03-11T12:57:30Z | |
Publication date | dc.date.issued | 2009 | |
Cita de ítem | dc.identifier.citation | Acta Neurologica Scandinavica, Volumen 119, Issue 5, 2018, Pages 321-324 | |
Identifier | dc.identifier.issn | 00016314 | |
Identifier | dc.identifier.issn | 16000404 | |
Identifier | dc.identifier.other | 10.1111/j.1600-0404.2008.01096.x | |
Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/164744 | |
Abstract | dc.description.abstract | To study the variability at the myotonic dystrophy protein kinase (DMPK) gene in a Chilean sample of healthy people. DM1 is an autosomal dominant disorder caused by an expansion of a (CTG) repeat at the 3′-UTR of the gene DMPK. Healthy individuals have alleles under 35 repeats and diseased individuals have over 50. Methods - Genotyping the number of (CTG) repeats at this gene in a sample of healthy Chilean people. Results - Allele frequencies were significantly different from those of other populations. The most frequent allele was with five repeats. The frequency of larger alleles (>18 CTG repeats) was 11%, close to the European frequency (12%) and higher than the Japanese (8%) and Aboriginal Pehuenche samples (8%). Conclusions - Allelic frequencies in the Chilean sample studied were intermediate between those of the two ancestral populations (European and Pehuenche). © 2008 Blackwell Munksgaard. | |
Lenguage | dc.language.iso | en | |
Type of license | dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Chile | |
Link to License | dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | |
Source | dc.source | Acta Neurologica Scandinavica | |
Keywords | dc.subject | Genetic disorder | |
Keywords | dc.subject | Molecular genetics | |
Keywords | dc.subject | Muscle disorder | |
Keywords | dc.subject | Myopathy | |
Keywords | dc.subject | Neuroepidemiology | |
Keywords | dc.subject | Neurogenetics | |
Título | dc.title | CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample | |
Document type | dc.type | Artículo de revista | |
Cataloguer | uchile.catalogador | SCOPUS | |
Indexation | uchile.index | Artículo de publicación SCOPUS | |
uchile.cosecha | uchile.cosecha | SI | |
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Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile