RGD Reference Report - A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. - Rat Genome Database

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A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.

Authors: Yamamoto, T  Nanba, E 
Citation: Yamamoto T and Nanba E, Hum Mutat 1999 Aug 19;14(2):182.
RGD ID: 1358559
Pubmed: PMID:10425042   (View Abstract at PubMed)
DOI: DOI:10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU12>3.0.CO;2-Y   (Journal Full-text)

Abstract for this paper unavailable

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Pelizaeus-Merzbacher disease  IAGP 1358559DNA:missense mutation:cds:p.A246T (human)RGD 
Pelizaeus-Merzbacher disease  ISOPLP1 (Homo sapiens)1358559; 1358559DNA:missense mutation:cds:p.A246T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Plp1  (proteolipid protein 1)

Genes (Mus musculus)
Plp1  (proteolipid protein (myelin) 1)

Genes (Homo sapiens)
PLP1  (proteolipid protein 1)


Additional Information