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The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells.
Freed, Katy A; Blangero, John; Howard, Tom; Johnson, Matthew P; Curran, Joanne E; Garcia, Yvonne R; Lan, Hao-Chang; Abboud, Hanna E; Moses, Eric K.
Affiliation
  • Freed KA; Department of Genetics, Texas Biomedical Research Institute, San Antonio, TX 78245-0549, USA. kfreed@txbiomedgenetics.org
J Med Genet ; 48(8): 563-6, 2011 Aug.
Article in En | MEDLINE | ID: mdl-21546516
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription, Genetic / Leukocytes, Mononuclear / Gene Expression Regulation / Sequence Deletion / Base Pairing / TRPV Cation Channels Limits: Humans Language: En Journal: J Med Genet Year: 2011 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription, Genetic / Leukocytes, Mononuclear / Gene Expression Regulation / Sequence Deletion / Base Pairing / TRPV Cation Channels Limits: Humans Language: En Journal: J Med Genet Year: 2011 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido