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Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene
Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene
상세정보
- 자료유형
- 기사
- ISSN
- 87563282
- 서명/저자
- Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene / Baumgartner-Sigl, S. , , 공저 Haberlandt, E. , Mumm, S. , Scholl-Bürgi, S. , Sergi, C. , Ryan, L. , Ericson, K. L. , Whyte, M. P. , Högler, W.
- 발행사항
- Oxford : Elsevier Inc, 2007.
- 형태사항
- pp. 1655-1661
- 주기사항
- included reference
- 기타저자
- included reference
- 기타저자
- Haberlandt, E.
- 기타저자
- Mumm, S.
- 기타저자
- Scholl-Bürgi, S.
- 기타저자
- Sergi, C.
- 기타저자
- Ryan, L.
- 기타저자
- Ericson, K. L.
- 기타저자
- Whyte, M. P.
- 기타저자
- Högler, W.
- 원문정보
- url
- 모체레코드
- 모체정보확인
- Control Number
- kjul:60245882
MARC
008191122s2007 ai aa eng■022 ▼a87563282
■1001 ▼aBaumgartner-Sigl, S.
■24510▼aPyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677TC, p.M226T; c.1112CT, p.T371I) of the tissue-nonspecific alkaline phosphatase gene▼dBaumgartner-Sigl, S.▼e ▼e공저 Haberlandt, E.▼eMumm, S.▼eScholl-Bürgi, S.▼eSergi, C.▼eRyan, L.▼eEricson, K. L.▼eWhyte, M. P.▼eHögler, W.
■260 ▼aOxford▼bElsevier Inc▼c2007.
■300 ▼app. 1655-1661
■500 ▼aincluded reference
■7001 ▼a
■7001 ▼aHaberlandt, E.
■7001 ▼aMumm, S.
■7001 ▼aScholl-Bürgi, S.
■7001 ▼aSergi, C.
■7001 ▼aRyan, L.
■7001 ▼aEricson, K. L.
■7001 ▼aWhyte, M. P.
■7001 ▼aHögler, W.
■773 ▼tBone=International Bone and Mineral Society▼gVol. 40 No. 6 (2007. 6)▼d2007, 06
■856 ▼uhttp://www.elsevier.com/locate/bone
■SIS ▼aS040679▼b60077318▼h8▼s2▼fP
