Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 김승현 | - |
dc.date.accessioned | 2018-03-09T06:31:21Z | - |
dc.date.available | 2018-03-09T06:31:21Z | - |
dc.date.issued | 2013-04 | - |
dc.identifier.citation | Neurobiology Of Aging, 2013, 34(4), P.1311.e7-1311.e9 | en_US |
dc.identifier.issn | 0197-4580 | - |
dc.identifier.uri | http://www.neurobiologyofaging.org/article/S0197-4580(12)00460-5/fulltext | - |
dc.identifier.uri | http://hdl.handle.net/20.500.11754/44298 | - |
dc.description.abstract | The expansion of a noncoding hexanucleotide repeat (GGGGCC) in the chromosome 9 open reading frame (C9orf72) gene has been identified as the most common cause of familial and sporadic amyotrophic lateral sclerosis (ALS) in Caucasian populations. The role of the C9orf72 repeat expansion in Korean ALS patients, however, has not been reported. We therefore investigated the frequency of the C9orf72 repeat expansion in 254 Korean patients with familial (n = 8) and sporadic (n = 246) ALS and found that none of the patients had the expansion. The number of hexanucleotide repeats ranged from 2 to 11 in the 254 ALS patients without the expansion. Our results suggest that the C9orf72 repeat expansion is not the main cause of ALS in the Korean population. (C) 2013 Elsevier Inc. All rights reserved. | en_US |
dc.description.sponsorship | Korean Health Technology RD Project Ministry for Health, Welfare & Family Affairs, Republic of Korea National Research Foundation of Korea (NRF) Korea government (MEST) | en_US |
dc.language.iso | en | en_US |
dc.publisher | Elsevier Science Inc | en_US |
dc.subject | Amyotrophic lateral sclerosis | en_US |
dc.subject | C9orf72 | en_US |
dc.subject | Hexanucleotide repeat | en_US |
dc.subject | Korean | en_US |
dc.title | Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis | en_US |
dc.type | Article | en_US |
dc.relation.no | 4 | - |
dc.relation.volume | 34 | - |
dc.identifier.doi | 10.1016/j.neurobiolaging.2012.09.004 | - |
dc.relation.page | 13117-13119 | - |
dc.relation.journal | NEUROBIOLOGY OF AGING | - |
dc.contributor.googleauthor | Jang, Ja-Hyun | - |
dc.contributor.googleauthor | Kwon, Min-Jung | - |
dc.contributor.googleauthor | Choi, Won Jun | - |
dc.contributor.googleauthor | Oh, Ki-Wook | - |
dc.contributor.googleauthor | Koh, Seong-Ho | - |
dc.contributor.googleauthor | Ki, Chang-Seok | - |
dc.contributor.googleauthor | Kim, Seung Hyun | - |
dc.relation.code | 2013011442 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | kimsh1 | - |
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