Publication

Wicklow BA, Ivanovich JL, Plews MM, Salo TJ, Noetzel MJ, Lueder GT, Cartegni L, Kaback MM, Sandhoff K, Steiner RD, Triggs-Raine BL, Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA. Am J Med Genet127A(2):158-166 2004
PubMed ID: 15108204

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Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM08399Female19 YR1847probandAPPARENTLY HEALTHY NON-FETAL TISSUE