A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII

PLoS ONE

Volumn 7, Issue 7, 2012, Pages

  Hytönen, Marjo K ^a,b,c   Arumilli, Meharji ^a,b   Lappalainen, Anu K ^a   Kallio, Heli ^a   Snellman, Marjatta ^a   Sainio, Kirsi ^c   Lohi, Hannes ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA MANNOSIDASE; BETA GLUCURONIDASE;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; BONE RADIOGRAPHY; CHROMOSOME 6; CONTROLLED STUDY; DOG; ENZYME ACTIVITY; ENZYMURIA; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GUSB GENE; HETEROZYGOTE; HISTOPATHOLOGY; INDEL MUTATION; MALE; MISSENSE MUTATION; MORQUIO SYNDROME; NONHUMAN; PEDIGREE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION; SPONDYLOEPIPHYSEAL DYSPLASIA;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BONE AND BONES; CHROMOSOMES, MAMMALIAN; DOGS; DWARFISM; FEMALE; GENETIC TESTING; GENOME-WIDE ASSOCIATION STUDY; GLUCURONIDASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS VII; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; OSTEOGENESIS;

CANIS FAMILIARIS;

EID: 84863622654     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0040281     Document Type: Article

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