Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene

Neurogenetics

Volumn 11, Issue 2, 2010, Pages 163-174

  Dekomien, Gabriele ^a   Vollrath, Conni ^a   Petrasch Parwez, Elisabeth ^a   Boevé, Michael H ^b   Akkad, Denis A ^a   Gerding, Wanda M ^a   Epplen, Jörg T ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UTRECHT UNIVERSITY   (Netherlands)

Author keywords

CCDC66 gene; CCDC66 immunohistochemistry; Generalized progressive retinal atrophy; Insertion mutation; Retinal protein expression

Indexed keywords

COILED COIL DOMAIN CONTAINING 66 PROTEIN; COMPLEMENTARY DNA; GENOMIC DNA; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; ATROPHY; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SAMPLING; C57BL 6 MOUSE; CHROMOSOME 20; DOG; EXON; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROGRESSIVE RETINAL ATROPHY; PROTEIN ANALYSIS; RETINA DISEASE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; STOP CODON; VISUAL IMPAIRMENT; WESTERN BLOTTING;

AMINO ACID SEQUENCE; ANIMALS; DNA MUTATIONAL ANALYSIS; DOGS; HUMANS; LINKAGE (GENETICS); MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY; RETINA; RETINAL DEGENERATION; SEQUENCE ALIGNMENT;

CANIS FAMILIARIS; VERTEBRATA;

EID: 77954656633     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-009-0223-z     Document Type: Article

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