지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 704 - 706 (3page)
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참고문헌 (7)
참고문헌 신청
van Paassen BW / 2014 / PMP22 related neuropathies : Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies / Orphanet J Rare Dis 9:38
Koutsis G / 2012 / Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease / Brain 135(Pt 8):e217
Fusco C / 2017 / Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene / Ital J Pediatr 43:97
Liao YC / 2017 / Clinical and molecular characterization of PMP22 point mutations in Taiwanese patients with inherited neuropathy / Sci Rep 7:15363
Nelis E / 1996 / Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies : a European collaborative study / Eur J Hum Genet 4:25~33
Koutsis G / 2012 / Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease / Brain 135(Pt 8):e217
Fusco C / 2017 / Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene / Ital J Pediatr 43:97
Liao YC / 2017 / Clinical and molecular characterization of PMP22 point mutations in Taiwanese patients with inherited neuropathy / Sci Rep 7:15363
Nelis E / 1996 / Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies : a European collaborative study / Eur J Hum Genet 4:25~33
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