Publication

Steet RA, Hullin R, Kudo M, Martinelli M, Bosshard NU, Schaffner T, Kornfeld S, Steinmann B, A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy. Am J Med Genet A132(4):369-75 2005
PubMed ID: 15633164

Records Return:  (1) Show
 
Catalog IDGenderAge at SamplingDescription
GM20136Female47 YRMUCOLIPIDOSIS IIIA