Article
Characterization of a putative founder mutation that accounts for the high incidence of cystinosis in Brittany.
Journal of the American Society of Nephrology : JASN - 1 Oct 2001
Kalatzis Vasiliki, Cherqui Stéphanie, Jean Geneviève, Cordier Béatrice, Cochat Pierre, Broyer Michel, Antignac Corinne
Abstract excerpt
Cystinosis is an autosomal recessive disorder, characterized by an accumulation of intralysosomal cystine, with an incidence of 1 in 100,000 to 200,000 live births. A higher incidence of cystinosis, 1 in 26,000 live births, has been reported in the western French province of Brittany. PCR amplification and sequencing has identified a 27-bp deletion starting 3 bp before the end of exon 8 and continuing into intron...
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