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

Journal of Medical Genetics

Volumn 48, Issue 8, 2011, Pages 563-566

  Freed, Katy A ^a   Blangero, John ^a   Howard, Tom ^b   Johnson, Matthew P ^a   Curran, Joanne E ^a   Garcia, Yvonne R ^a   Lan, Hao Chang ^a   Abboud, Hanna E ^c   Moses, Eric K ^a  

^a SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

^b VA GREATER LOS ANGELES HEALTHCARE SYSTEM   (United States)

^c University of Texas Health Science Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTINOSIN; MESSENGER RNA; PROTEIN; SHPK PROTEIN; UNCLASSIFIED DRUG; VANILLOID RECEPTOR 1;

ARTICLE; CHROMOSOME 17P; CYSTINOSIS; DNA EXTRACTION; EXON; GENE DELETION; GENE EXPRESSION; GENE EXPRESSION PROFILING; HUMAN; HUMAN TISSUE; INTRON; NUCLEOTIDE SEQUENCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION;

BASE PAIRING; CHROMOSOMES, HUMAN, PAIR 17; CYSTINOSIS; DNA; GENE EXPRESSION REGULATION; GENOME, HUMAN; HUMANS; LEUKOCYTES, MONONUCLEAR; RNA; SEQUENCE DELETION; TRANSCRIPTION, GENETIC; TRPV CATION CHANNELS;

EID: 79961129117     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.083303     Document Type: Article

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