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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 27 - 31 (5page)
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초록· 키워드
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Ullrich disease is a rare congenital muscular dystrophy, which is clinically characterized by generalized muscular weakness,distal joint hyperextensibility, proximal joint contractures, protuberant calcanei and high-arched palate. The disease is caused by collagen VI deficiency in interstitum and/or sarcolemma of skeletal muscles, for which mutations either in COL6A1,COL6A2 or COL6A3 are responsible. We report a girl who presented with symptoms typical of Ullrich disease, in whom the diagnosis was confirmed by immunohistochemistry and molecular genetic study
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참고문헌 (9)
참고문헌 신청
Camacho Vanegas O / 2001 / Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI / Proc Natl Acad Sci : 7516 ~ 7521
Ishikawa H / 2004 / Ullrich disease due to deficiency of collagen VI in the sarcolemma / Neurology 62 : 620 ~ 623
Lampe AK / 2005 / Automated genomic sequence analysis of the three collagen genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy / J Med Genet 42
Lampe AK / 2005 / Collagen VI related muscle disorders / J Med Genet 42 : 673 ~ 685
Nadeau A / 2009 / Natural history of Ullrich congenital muscular dystrophy / Neurology 73 : 25 ~ 31
Ishikawa H / 2004 / Ullrich disease due to deficiency of collagen VI in the sarcolemma / Neurology 62 : 620 ~ 623
Lampe AK / 2005 / Automated genomic sequence analysis of the three collagen genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy / J Med Genet 42
Lampe AK / 2005 / Collagen VI related muscle disorders / J Med Genet 42 : 673 ~ 685
Nadeau A / 2009 / Natural history of Ullrich congenital muscular dystrophy / Neurology 73 : 25 ~ 31
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