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
- 2015.1
- 수록면
- 197 - 199 (3page)
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참고문헌 (5)
참고문헌 신청
Braverman N / 2002 / Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype / Hum Mutat 20
Horn MA / 2007 / Phenotype of adult Refsum disease due to a defect in peroxin 7 / Neurology 68 : 698 ~ 700
Jansen GA / 1997 / Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene / Nat Genet 17 : 190 ~ 193
Jansen GA / 2004 / Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH)and the PTS2 receptor (PEX7) / Hum Mutat 23 : 209 ~ 218
Van den Brink DM / 2003 / Identification of PEX7 as the second gene involved in Refsum disease / Adv Exp Med Biol 544 : 69 ~ 70
Horn MA / 2007 / Phenotype of adult Refsum disease due to a defect in peroxin 7 / Neurology 68 : 698 ~ 700
Jansen GA / 1997 / Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene / Nat Genet 17 : 190 ~ 193
Jansen GA / 2004 / Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH)and the PTS2 receptor (PEX7) / Hum Mutat 23 : 209 ~ 218
Van den Brink DM / 2003 / Identification of PEX7 as the second gene involved in Refsum disease / Adv Exp Med Biol 544 : 69 ~ 70
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