A nonsense variant in COL6A1 in landseer dogs with muscular dystrophy

G3: Genes, Genomes, Genetics

Volumn 5, Issue 12, 2015, Pages 2611-2617

  Steffen, Frank ^a   Bilzer, Thomas ^b   Brands, Jan ^b   Golini, Lorenzo ^a   Jagannathan, Vidhya ^c   Wiedmer, Michaela ^c   Drögemüller, Michaela ^c   Drögemüller, Cord ^c   Leeb, Tosso ^c  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c UNIVERSITY OF BERN   (Switzerland)

Author keywords

Animal model; Dog; Mendelian traits; Veterinary genetics; Whole genome sequencing

Indexed keywords

COLLAGEN TYPE 6; COLLAGEN TYPE 6A1; DNA; UNCLASSIFIED DRUG; STOP CODON;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BREED; CANINE MODEL; CHROMOSOME; CHROMOSOME 10; CHROMOSOME 31; CONTROLLED STUDY; DISEASE COURSE; DOG; EUTHANASIA; EXON; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC TRAIT; GENETIC VARIABILITY; GENOME; GENOTYPE; HOMOZYGOSITY; LANDSEER DOG; MALE; MUSCLE ATROPHY; MUSCLE CELL; MUSCLE NECROSIS; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NONHUMAN; NONSENSE MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; CHROMOSOMAL MAPPING; DISEASE MODEL; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; METABOLISM; MUSCULAR DYSTROPHIES; PATHOLOGY; SKELETAL MUSCLE; STOP CODON;

ANIMALS; CHROMOSOME MAPPING; CODON, NONSENSE; COLLAGEN TYPE VI; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; DOGS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; GENOME; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES;

EID: 84949935675     PISSN: None     EISSN: 21601836     Source Type: Journal    
DOI: 10.1534/g3.115.021923     Document Type: Article

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