Article
Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.
Genetic testing - 1 Sept 2008
Alcántara-Ortigoza Miguel Angel, Belmont-Martínez Leticia, Vela-Amieva Marcela, González-Del Angel Ariadna
Abstract excerpt
OBJECTIVE: Identify CTNS gene mutations in nephropathic cystinosis Mexican patients. SUBJECTS AND METHODS: Eleven patients were included, nine presenting infantile nephropathic cystinosis and two siblings with the juvenile phenotype. The common 57-kb deletion was detected by multiplex PCR using large deletion marker-2 (LDM-2)/exon 4 set primers. Those alleles negative for 57-kb deletion were screened by single...
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