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Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death 被引量:4

Ethnic-specific splicing mutation of the carnitine-acylcarnitine translocase gene in a Chinese neonate presenting with sudden unexpected death
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出处 《Chinese Medical Journal》 SCIE CAS CSCD 2003年第7期1110-1112,共3页 中华医学杂志(英文版)
关键词 carnitine acylcarnitine translocase deficiency SLC25A20 gene mutation carnitine acylcarnitine translocase deficiency · SLC25A20 gene · mutation
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参考文献3

  • 1A. Ogawa,S. Yamamoto,M. Kanazawa,M. Takayanagi,S. Hasegawa,Y. Kohno. Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency[J] 2000,Journal of Human Genetics(1):52~55
  • 2D. Rabier,J. Bardet,Ph. Parvy,F. Poggi,M. Brivet,J. M. Saudubray,P. Kamoun. Do criteria exist from urinary organic acids to distinguish β-oxidation defects?[J] 1995,Journal of Inherited Metabolic Disease(2):257~260
  • 3John E. Walker,Michael J. Runswick. The mitochondrial transport protein superfamily[J] 1993,Journal of Bioenergetics and Biomembranes(5):435~446

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