A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds

PLoS ONE

Volumn 8, Issue 2, 2013, Pages

  Seppälä, Eija H ^a,b   Reuser, Arnold J J ^c   Lohi, Hannes ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE; MESSENGER RNA;

ACID ALPHA GLUCOSIDASE GENE; ARTICLE; CONTROLLED STUDY; DOG DISEASE; FINLAND; GLYCOGEN STORAGE DISEASE TYPE 2; HOMOZYGOTE; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PREMATURE STOP CODON; SEQUENCE ANALYSIS; STOP CODON; SWEDEN;

ALPHA-GLUCOSIDASES; ANIMALS; CODON, NONSENSE; DOGS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; MALE; PEDIGREE; SPECIES SPECIFICITY;

EID: 84874016624     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0056825     Document Type: Article

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