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dc.contributor.author조안나-
dc.date.accessioned2017-05-12T01:05:20Z-
dc.date.available2017-05-12T01:05:20Z-
dc.date.issued2017-
dc.identifier.issn0148-639X-
dc.identifier.issn1097-4598-
dc.identifier.otherOAK-20535-
dc.identifier.urihttps://dspace.ewha.ac.kr/handle/2015.oak/235096-
dc.description.abstractIntroduction: 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.languageEnglish-
dc.publisherWILEY-
dc.subjectBecker muscular dystrophy-
dc.subjectDuchenne muscular dystrophy-
dc.subjectdystrophin-
dc.subjectmutation spectrum-
dc.subjectpoint mutation-
dc.titleCONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER-
dc.typeArticle-
dc.relation.issue5-
dc.relation.volume55-
dc.relation.indexSCIE-
dc.relation.indexSCOPUS-
dc.relation.startpage727-
dc.relation.lastpage734-
dc.relation.journaltitleMUSCLE & NERVE-
dc.identifier.doi10.1002/mus.25396-
dc.identifier.wosidWOS:000399708900020-
dc.identifier.scopusid2-s2.0-85017508414-
dc.author.googleCho, Anna-
dc.author.googleSeong, Moon-Woo-
dc.author.googleLim, Byung Chan-
dc.author.googleLee, Hwa Jeen-
dc.author.googleByeon, Jung Hye-
dc.author.googleKim, Seung Soo-
dc.author.googleKim, Soo Yeon-
dc.author.googleChoi, Sun Ah-
dc.author.googleWong, Ai-Lynn-
dc.author.googleLee, Jeongho-
dc.author.googleKim, Jon Soo-
dc.author.googleRyu, Hye Won-
dc.author.googleLee, Jin Sook-
dc.author.googleKim, Hunmin-
dc.author.googleHwang, Hee-
dc.author.googleChoi, Ji Eun-
dc.author.googleKim, Ki Joong-
dc.author.googleHwang, Young Seung-
dc.author.googleHong, Ki Ho-
dc.author.googlePark, Seungman-
dc.author.googleCho, Sung Im-
dc.author.googleLee, Seung Jun-
dc.author.googlePark, Hyunwoong-
dc.author.googleSeo, Soo Hyun-
dc.author.googlePark, Sung Sup-
dc.author.googleChae, Jong Hee-
dc.contributor.scopusid조안나(56655964000)-
dc.date.modifydate20210915143108-
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의과대학 > 의학과 > Journal papers
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