GNPTAB C.2404c > T Nonsense Mutation in a Patient with Mucolipidosis III Alpha/beta: a Case Report
BMC medical genetics（2018）
Key words
Mucolipidosis III alpha/beta,Pseudo-hurler polydystrophy,GlcNAc-1-phosphotransferase,GNPTAB,Nonsense variant,P.Q802*
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