Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene

Current Eye Research

Volumn 17, Issue 7, 1998, Pages 726-729

  Beaufrère, Laurent ^a,b   Rieu, Stéphanie ^a   Hache, Jean Claude ^c   Dumur, Viviane ^c   Claustres, Mireille ^a   Tuffery, Sylvie ^a,d  

^a Centre National de la Recherche Scientifique   (France)

^b MONTPELLIER UNIVERSITY HOSPITAL   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d Institute of Biology   (France)

Author keywords

Choroideremia gene; Splice site mutation; Transcripts analysis

Indexed keywords

COMPLEMENTARY DNA; HELICASE; MESSENGER RNA;

ADULT; ARTICLE; CASE REPORT; CHOROIDEREMIA; CONTROLLED STUDY; EXON; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA PROCESSING; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

EID: 0031844870     PISSN: 02713683     EISSN: None     Source Type: Journal    
DOI: 10.1076/ceyr.17.7.726.5169     Document Type: Article

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