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

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Year: 2011
Type: article
Study design: Observational Study
Source: Journal of Medical Genetics
DOI: 10.1136/jmg.2010.083303
Authors: Katy A Freed, John Blangero, Tom Howard, Matthew P Johnson, Joanne E Curran, Yvonne R Garcia, Hao-Chang Lan, Hanna E Abboud, Eric K Moses
Institutions: Texas Biomedical Research Institute, United States Department of Veterans Affairs, VA Greater Los Angeles Healthcare System, The University of Texas at San Antonio Health Science Center
Language: English

Topic: Biomedical Research and Pathophysiology
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed

Funders: Cystinosis Research Foundation, Texas Biomedical Research Institute, National Institutes of Health, University of Texas Health Science Center at San Antonio, National Center for Research Resources
Awards: EXTRAMULAR RESEARCH FACILITIES CONSTRUCTION, G518778165
OpenAlex ID: W1980669877
FWCI: 0.848
Cites: 19
Cited by: 21
Related to: 10
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