RGD Reference Report - A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. - Rat Genome Database

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A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.

Authors: Rupar, C A  Matsell, D  Surry, S  Siu, V 
Citation: Rupar CA, etal., J Med Genet. 2001 Sep;38(9):615-6.
RGD ID: 12910936
Pubmed: PMID:11565547   (View Abstract at PubMed)
PMCID: PMC1734937   (View Article at PubMed Central)

Abstract for this paper unavailable

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cystinosis  IAGP 12910936DNA:missense mutation:cds:p.G339R (human)RGD 
cystinosis  ISOCTNS (Homo sapiens)12910936; 12910936DNA:missense mutation:cds:p.G339R (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ctns  (cystinosin, lysosomal cystine transporter)

Genes (Mus musculus)
Ctns  (cystinosis, nephropathic)

Genes (Homo sapiens)
CTNS  (cystinosin, lysosomal cystine transporter)


Additional Information