The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells

The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells

Background: Cystinosis is an autosomal recessive disease characterised by the abnormal accumulation of lysosomal cystine. Mutations in the cystinosin gene (CTNS) represent known causes for the disease. The major cystinosis mutation is a 57 kb deletion on human chromosome 17p13 that removes the major...

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Bibliographic Details
Main Authors: Freed, K., Blangero, J., Howard, T., Johnson, M., Curran, J., Garcia, Y., Lan, H., Abboud, H., Moses, Eric
Format: Journal Article
Published: 2011
Online Access:http://hdl.handle.net/20.500.11937/24017

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