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 (Q55671098)

From Wikidata
Jump to navigation Jump to search
article
edit
Language Label Description Also known as
English
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
article

    Statements

    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 (English)
    0 references
    Richard A Steet
    0 references
    Roger Hullin
    0 references
    Mariko Kudo
    0 references
    Michele Martinelli
    0 references
    Nils U Bosshard
    0 references
    Thomas Schaffner
    0 references
    Stuart Kornfeld
    0 references
    Beat Steinmann
    0 references
    1 February 2005
    0 references
    132A
    0 references
    4
    0 references
    369-75
    0 references

    Identifiers

     
    edit
      edit
        edit
          edit
            edit
              edit
                edit
                  edit
                    edit