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Article

A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family.

Gene - 1 Mar 2012

Kiehntopf Michael, Varga Rita-Eva, Koch Hans G, Beetz Christian

Abstract excerpt

Infantile nephropatic cystinosis is a rare, recessive, and genetically homogeneous disorder impairing renal function. It is caused by mutations in CTNS. Several large copy number aberrations have been identified but, for the majority of these, heterozygous patients and carriers can not easily be identified. We therefore developed a multiplex ligation-dependent probe amplification assay targeting eight of the...

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Source

Identifiers

PMID: 22209718
DOI: 10.1016/j.gene.2011.12.005

Genes

CTNS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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