A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier

PLoS Genetics

Volumn 7, Issue 10, 2011, Pages

  Wöhlke, Anne ^a   Philipp, Ute ^a   Bock, Patricia ^a   Beineke, Andreas ^a   Lichtner, Peter ^b   Meitinger, Thomas ^b,c   Distl, Ottmar ^a  

^a UNIVERSITY OF VETERINARY MEDICINE HANNOVER   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL TISSUE; ARTICLE; ATP13A2 GENE; BASE PAIRING; CHROMOSOME 2; CONTROLLED STUDY; DOG; EXON SKIPPING; GENE; GENE DELETION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; LINKAGE ANALYSIS; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE; ANIMAL; ANIMAL DISEASE; EXON; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETICS; ONSET AGE;

ANIMALIA; CANIS FAMILIARIS;

ATP13A2 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE;

AGE OF ONSET; ANIMALS; DOGS; EXONS; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; NEURONAL CEROID-LIPOFUSCINOSES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTON-TRANSLOCATING ATPASES; SEQUENCE DELETION;

EID: 84857080115     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002304     Document Type: Article

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