Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa

Genomics

Volumn 11, Issue 2, 1991, Pages 468-470

  Gal, Andreas ^a   Artlich, Andreas ^a   Ludwig, Michael ^b   Niemeyer, Günter ^b   Olek, Klaus ^c   Schwinger, Eberhard ^a   Schinzel, Albert ^c  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

OLIGONUCLEOTIDE; RHODOPSIN;

ARTICLE; DNA PROBE; GENETICS; HUMAN; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; RETINITIS PIGMENTOSA; SYNTHESIS; ADULT; AUTOSOMAL DOMINANT DISORDER; HUMAN TISSUE; MAJOR CLINICAL STUDY;

BASE SEQUENCE; DNA PROBES; HUMAN; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDES; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; RETINITIS PIGMENTOSA; RHODOPSIN; SUPPORT, NON-U.S. GOV'T;

EID: 0026234831     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/0888-7543(91)90159-C     Document Type: Article

References (10)

1. Zur Vererbung der Hemeralopia hereditaria und tapeto-retinalen Degeneration
2. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
3. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
4. Autosomal dominant retinitis pigmentosa: Absence of the rhodopsin proline → histidine substitution (codon 23) in pedigrees from Europe
5. Autosomal dominant sectoral retinitis pigmentosa: Two families with transversion mutation in codon 23 of rhodopsin
6. A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa
7. Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels
8. Isolation and nucleotide sequence of the gene encoding human rhodopsin
9. Information von der Netzhaut durch Elektroretinographie
10. Autosomal-dominant erbliche Retinopathia pigmentosa ist genetisch heterogen