G2Cdb::Allele report

Mutation type
P

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 G to T mutation at a splice site in a case of Pelizaeus-Merzbacher disease.

    Strautnieks S and Malcolm S

    Molecular Genetics Unit, Institute of Child Health, London, UK.

    Human molecular genetics 1993;2;12;2191-2

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

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