A splice-site mutation causing ovine McArdle's disease

Neuromuscular Disorders

Volumn 7, Issue 5, 1997, Pages 336-342

  Tan, P ^a,b   Allen, J G ^c   Wilton, S D ^a   Akkari, P A ^a   Huxtable, C R ^b   Laing, N G ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b MURDOCH UNIVERSITY   (Australia)

^c DEPARTMENT OF AGRICULTURE AND FOOD WESTERN AUSTRALIA   (Australia)

Author keywords

McArdle's disease; Myophosphorylase deficiency; Ovine; Splice site mutation

Indexed keywords

COMPLEMENTARY DNA; GLYCOGEN PHOSPHORYLASE;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC POLYMORPHISM; GLYCOGEN STORAGE DISEASE TYPE 5; INTRON; MYOPATHY; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SHEEP; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CATTLE; DNA, COMPLEMENTARY; DNA, RECOMBINANT; GENOME; GLYCOGEN STORAGE DISEASE TYPE V; HETEROZYGOTE DETECTION; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHORYLASES; POLYMORPHISM, GENETIC; REFERENCE VALUES; SEQUENCE HOMOLOGY, AMINO ACID; SHEEP;

EID: 0030774756     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00062-X     Document Type: Article

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