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Severe subacute G(M2) gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mmRNA
Wicklow BA,
Ivanovich JL,
Plews MM,
Salo TJ,
Noetzel MJ,
Lueder GT,
Cartegni L,
Kaback MM,
Sandhoff K,
Steiner RD,
Triggs-Raine BL

American Journal of Medical Genetics Part A
  127A (2): 158-166; Jun 2004  
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