A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy

Retina

Volumn 26, Issue 8, 2006, Pages 947-953

  Pajic, Bojan ^a   Weigell Weber, Maike ^b   Schipper, Isaak ^c   Kryenbühl, Christoph ^d   Büchi, Ernst R ^d   Spiegel, Roland ^e   Hergersberg, Martin ^f  

^a Klinik Pallas   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Kantonsspital Luzern Augenklinik   (Switzerland)

^d Humangenetisches Labor ^*

^e Humangenetisches Labor   (Switzerland)

^f CANTONAL HOSPITAL AARAU   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PERIPHERIN; RETINAL DEGENERATION SLOW PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; EXON; FAMILY STUDY; FEMALE; GENE; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; PERIPHERIN GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINA DYSTROPHY; RETINAL DEGENERATION SLOW GENE; RETINAL PATTERN DYSTROPHY; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; SWITZERLAND;

EID: 33749596303     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.iae.0000250010.60908.e3     Document Type: Article

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