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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
- 2007.1
- 수록면
- 101 - 104 (4page)
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초록· 키워드
오류제보하기
Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p12 deletion. An altered gene dosage of PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated with the same locus, there has been no report of these two mutations within a single family. We report a rare family harboring CMT1A duplication and HNPP deletion.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Blair IP / 1996 / Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin 58 : 472
Boerkoel CF / 2002 / Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype- phenotype correlation 51 : 190 ~ 201
Chance PF / 2006 / Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy 8 : 159 ~ 174
Kim SM / 2004 / Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion 36 : 2 28 ~ 35
Kiyosawa H / 1995 / Analysis of the CMT1A-REPmapping crossover breakpoints in CMT1A and HNPP 4 : 2327 ~ 2334
Boerkoel CF / 2002 / Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype- phenotype correlation 51 : 190 ~ 201
Chance PF / 2006 / Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy 8 : 159 ~ 174
Kim SM / 2004 / Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion 36 : 2 28 ~ 35
Kiyosawa H / 1995 / Analysis of the CMT1A-REPmapping crossover breakpoints in CMT1A and HNPP 4 : 2327 ~ 2334
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염색체 17p11.2유전자 결손을 동반한 유전성 압막마비 편향 신경병증의 임상적, 전기생리학적 특성
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Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication
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