RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

Human Molecular Genetics

Volumn 8, Issue 8, 1999, Pages 1571-1578

  Kirschner, Renate ^a   Rosenberg, Thomas ^b   Schultz Heienbrok, Robert ^a   Lenzner, Steffen ^a   Feil, Silke ^a   Roepman, Ronald ^c   Cremers, Frans P M ^c   Ropers, Hans Hilger ^a,c   Berger, Wolfgang ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b National Eye Clinic for the Visually Impaired Denmark   (Denmark)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE; POLYPEPTIDE;

ALTERNATIVE RNA SPLICING; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; BLINDNESS; CARBOXY TERMINAL SEQUENCE; CHROMOSOME XP; CONTROLLED STUDY; DNA LIBRARY; EXON; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; ISOPRENYLATION; MOUSE; NONHUMAN; NORTHERN BLOTTING; OPEN READING FRAME; PHOTORECEPTOR CELL; PRIORITY JOURNAL; REGULATOR GENE; RETINA; RETINA DEGENERATION; RETINA ROD; RETINITIS PIGMENTOSA; STOP CODON; TISSUE SPECIFICITY; VISUAL ACUITY; X CHROMOSOME LINKAGE;

ADULT; ANIMALS; ANIMALS, NEWBORN; BASE SEQUENCE; BLINDNESS; CARRIER PROTEINS; CELL LINE; DNA, COMPLEMENTARY; EXONS; EYE PROTEINS; FEMALE; FOLLOW-UP STUDIES; GENE EXPRESSION; GENES; HUMANS; INTRONS; LINKAGE (GENETICS); MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN ISOFORMS; RETINA; RETINITIS PIGMENTOSA; RNA; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SEQUENCE HOMOLOGY, NUCLEIC ACID; TISSUE DISTRIBUTION; TRANSCRIPTION, GENETIC; VISION TESTS; X CHROMOSOME;

ANIMALIA; EUKARYOTA;

EID: 0032816282     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.8.1571     Document Type: Article

References (29)

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