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

Rupar, C A; Matsell, D; Surry, S; Siu, V

Rupar, C A; Matsell, D; Surry, S; Siu, V.

J Med Genet ; 38(9): 615-6, 2001 Sep.

Article in En | MEDLINE | ID: mdl-11565547

Subject(s)

Cystinosis/genetics; Ethnicity/genetics; Glycoproteins; Membrane Proteins/genetics; Mutation, Missense/genetics; Amino Acid Transport Systems, Neutral; Base Sequence; Christianity; Cystinosis/epidemiology; DNA Mutational Analysis; Exons/genetics; Female; Gene Frequency/genetics; Genetic Testing; Homozygote; Humans; Infant; Male; Membrane Transport Proteins; Ontario/epidemiology; Sequence Deletion/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glycoproteins / Ethnicity / Mutation, Missense / Cystinosis / Membrane Proteins Limits: Female / Humans / Infant / Male Country/Region as subject: America do norte Language: En Journal: J Med Genet Year: 2001 Document type: Article Country of publication: United kingdom

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