Full metadata record
DC Field | Value | Language |
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dc.contributor.author | 조안나 | - |
dc.date.accessioned | 2017-05-12T01:05:20Z | - |
dc.date.available | 2017-05-12T01:05:20Z | - |
dc.date.issued | 2017 | - |
dc.identifier.issn | 0148-639X | - |
dc.identifier.issn | 1097-4598 | - |
dc.identifier.other | OAK-20535 | - |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/235096 | - |
dc.description.abstract | Introduction: Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked recessive muscle diseases caused by mutations in the large and complex dystrophin gene. Methods: We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification and direct sequencing. Results: Overall, 117 different deletions, 48 duplications, and 90 pathogenic sequence variations, including 30 novel variations, were identified. Deletions and duplications accounted for 65.4% and 13.3% of Korean dystrophinopathy, respectively, suggesting that the incidence of large rearrangements in dystrophin is similar among different ethnic groups. We also detected sequence variations in >100 probands. The small variations were dispersed across the whole gene, and 12.3% were nonsense mutations. Conclusions: Precise genetic characterization in patients with DMD/BMD is timely and important for implementing nationwide registration systems and future molecular therapeutic trials in Korea and globally. | - |
dc.language | English | - |
dc.publisher | WILEY | - |
dc.subject | Becker muscular dystrophy | - |
dc.subject | Duchenne muscular dystrophy | - |
dc.subject | dystrophin | - |
dc.subject | mutation spectrum | - |
dc.subject | point mutation | - |
dc.title | CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER | - |
dc.type | Article | - |
dc.relation.issue | 5 | - |
dc.relation.volume | 55 | - |
dc.relation.index | SCIE | - |
dc.relation.index | SCOPUS | - |
dc.relation.startpage | 727 | - |
dc.relation.lastpage | 734 | - |
dc.relation.journaltitle | MUSCLE & NERVE | - |
dc.identifier.doi | 10.1002/mus.25396 | - |
dc.identifier.wosid | WOS:000399708900020 | - |
dc.identifier.scopusid | 2-s2.0-85017508414 | - |
dc.author.google | Cho, Anna | - |
dc.author.google | Seong, Moon-Woo | - |
dc.author.google | Lim, Byung Chan | - |
dc.author.google | Lee, Hwa Jeen | - |
dc.author.google | Byeon, Jung Hye | - |
dc.author.google | Kim, Seung Soo | - |
dc.author.google | Kim, Soo Yeon | - |
dc.author.google | Choi, Sun Ah | - |
dc.author.google | Wong, Ai-Lynn | - |
dc.author.google | Lee, Jeongho | - |
dc.author.google | Kim, Jon Soo | - |
dc.author.google | Ryu, Hye Won | - |
dc.author.google | Lee, Jin Sook | - |
dc.author.google | Kim, Hunmin | - |
dc.author.google | Hwang, Hee | - |
dc.author.google | Choi, Ji Eun | - |
dc.author.google | Kim, Ki Joong | - |
dc.author.google | Hwang, Young Seung | - |
dc.author.google | Hong, Ki Ho | - |
dc.author.google | Park, Seungman | - |
dc.author.google | Cho, Sung Im | - |
dc.author.google | Lee, Seung Jun | - |
dc.author.google | Park, Hyunwoong | - |
dc.author.google | Seo, Soo Hyun | - |
dc.author.google | Park, Sung Sup | - |
dc.author.google | Chae, Jong Hee | - |
dc.contributor.scopusid | 조안나(56655964000) | - |
dc.date.modifydate | 20210915143108 | - |