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한국인에서 AMPD1 유전자의 c.34 C>T 돌연변이 대립유전자 빈도

The Frequency of c.34 C>T Mutant Allele in AMPD1 among Koreans

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참고문헌 (7)

  1. "Myoadenylate deaminase deficiency.A common inherited defect with heterogeneous clinical presentation", 18, pp.185~194 (2000)
  2. "Molecular basis of AMP deaminase deficiency in skeletal muscle", 89, pp.6457~6461 (1992)
  3. "Distribution of AMP-deaminase isozymes in rat tissues", 87, pp.297~304 (1978)
  4. "Myoadenylate deaminase deficiency:functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle", 73, pp.720~730 (1984)
  5. "Myoadenylate deaminase deficiency", 65, pp.1023~1033 (1987)
  6. "Primary,secondary,and coincidental types of myoadenylate deaminase deficiency", 45, pp.547~548 (1999)
  7. "First missense mutations(R388W and R425H)of AMPD1 accompanied with myopathy found in a Japanese patient", 16, pp.467~472 (2000)

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