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

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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 Fanc...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 17
Cystine
Cystinosis
Female
Genes, Recessive
Genetic Carrier Screening
Genotype
Haplotypes
Humans
Lod Score
Male
Microsatellite Repeats
Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 8644713
PMCID: PMC1914568

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8644713-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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