A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3 Communicated by Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #395 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/395.pdf
Human Mutation（2001）
关键词
missense mutation
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