A complex allele (1064 del TC and IVS2 + 22 ins 7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy

Ophthalmic Genetics

Volumn 18, Issue 3, 1997, Pages 129-138

  Bareil, Corinne ^a   Hamel, Christian ^b   Arnaud, Bernard ^b   Demaille, Jacques ^a   Claustres, Mireille ^a  

^a Laboratoire de Biochimie Génétique and CNRS UPR   (France)

^b MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

Gene mutation; macular dystrophy; peripherin RDS; retinitis pigmentosa

Indexed keywords

PERIPHERIN;

ADULT; AGED; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; DNA FLANKING REGION; DNA POLYMORPHISM; DNA SEQUENCE; FEMALE; FRANCE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS;

ADULT; AGED; ALLELES; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; FUNDUS OCULI; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MACULAR DEGENERATION; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 0030708786     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816819709057126     Document Type: Article

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