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Article

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis.

American journal of human genetics - 1 Mar 1996

Jean G, Fuchshuber A, Town M M, Gribouval O, Schneider J A, Broyer M, van't Hoff W, Niaudet P, Antignac C

Abstract excerpt

Infantile nephropathic cystinosis is an autosomal recessive disorder characterized biochemically by an abnormally high intracellular content of free cystine in different organs and tissues due to a transport defect of cystine through the lysosomal membrane. Affected children present with the Fanconi syndrome and usually develop progressive renal failure within the 1st decade of life. Measurement of free cystine...

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Identifiers

PMID: 8644713
PMCID: PMC1914568

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