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지원사업
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
- 2017.1
- 수록면
- 559 - 562 (4page)
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초록· 키워드
오류제보하기
Antley-Bixler syndrome (ABS) is a rare congenital multiple malformation syndrome caused by mutations in fibroblast growth factor receptor 2 (FGFR2) and cytochrome p450 oxidoreductase (POR) genes [1-3]
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등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Adachi M / 2004 / Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley?Bixler syndrome / Am J Med Genet A 128A : 333 ~ 339
Adachi M / 2006 / POR R457H is a global founder mutation causing Antley?Bixler syndrome with autosomal recessive trait / Am J Med Genet A 140 : 633 ~ 635
Chun K / 1998 / FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome / Am J Med Genet 77 : 219 ~ 224
Fluck CE / 2004 / Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome / Nat Genet 36 : 228 ~ 230
Hyewon Woo / 2016 / Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR / 대한의학유전학회지 13 (1) : 31 ~ 35
Adachi M / 2006 / POR R457H is a global founder mutation causing Antley?Bixler syndrome with autosomal recessive trait / Am J Med Genet A 140 : 633 ~ 635
Chun K / 1998 / FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome / Am J Med Genet 77 : 219 ~ 224
Fluck CE / 2004 / Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome / Nat Genet 36 : 228 ~ 230
Hyewon Woo / 2016 / Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR / 대한의학유전학회지 13 (1) : 31 ~ 35
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