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从Guthrie卡片确定的中链乙-CoA脱酶基因中K329E突变的患病率

Y Matsubara1, K Narisawa, K Tada

  • 1Department of Biochemical Genetics, Tohoku University School of Medicine, Japan.

Lancet (London, England)
|August 31, 1991
PubMed
概括

中链乙基-CoA脱酶 (MCAD) 缺陷是一种遗传性疾病,与婴儿死亡有关. 在新生儿中对K329E突变的查可以使早期的饮食管理成为可能,并防止严重的结果.

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