G2Cdb::Allele report

Mutation type
?

Altered genes (1)

Gene Symbol Species Description
G00001806 PLP1 Homo sapiens proteolipid protein 1

Diseases (1)

Disease Description Nervous effect
D00000155 Pelizaeus-Merzbacher disease Y

Literature (1)

Pubmed - human_disease

  • A new proteolipid lipoprotein mutation in Pelizaeus-Merzbacher disease.

    Verhagen WI, Huygen PL, Smeets HJ, Renier WO and de Wijs I

    Journal of the neurological sciences 1997;147;2;215-6

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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