G2Cdb::Allele report

Mutation type
D

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 novel deletion (c663delC) at exon 5 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

    Matsumura T, Osaka H, Inoue K, Sugiyama N, Onishi H, Yamada Y, Hayashi M and Kosaka K

    Department of Psychiatry, School of Medicine, Yokohama City University, Tokyo, Japan.

    Human mutation 2001;17;1;80

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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