A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

PLoS Genetics

Volumn 5, Issue 7, 2009, Pages

  Drögemüller, Cord ^a   Becker, Doreen ^a   Brunner, Adrian ^a   Haase, Bianca ^a   Kircher, Patrick ^a   Seeliger, Frank ^b   Fehr, Michael ^c   Baumann, Ulrich ^a   Lindblad Toh, Kerstin ^d,e   Leeb, Tosso ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b ASTRAZENECA R AND D   (Sweden)

^c UNIVERSITY OF VETERINARY MEDICINE HANNOVER   (Germany)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; COLLAGEN; HEAT SHOCK PROTEIN 47;

ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 21; CONTROLLED STUDY; DACHSHUND; DOG; GENE; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENETIC CONSERVATION; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PROTEIN DOMAIN; RAT; SERPINH1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TRIPLE HELIX; ANIMAL; ANIMAL DISEASE; DOG DISEASE; GENETICS;

CANIS FAMILIARIS;

ANIMALS; DOG DISEASES; DOGS; HSP47 HEAT-SHOCK PROTEINS; HUMANS; MUTATION, MISSENSE; OSTEOGENESIS IMPERFECTA;

EID: 68249130696     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1000579     Document Type: Article

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