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Pelizaeus-Merzbacher disease

 

Etiology

-  duplication or deletion of the proteolipid protein gene PLP1

References

-  Yool DA, Edgar JM, Montague P, Malcolm S. The proteolipid protein gene and myelin disorders in man and animal models. Hum Mol Genet. 2000 Apr 12;9(6):987-92. PMID: #10767322#

-  Woodward K, Malcolm S. Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice. Trends Genet. 1999 Apr;15(4):125-8. PMID: #10203813#



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