Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis

Genomics

Volumn 91, Issue 5, 2008, Pages 458-466

  McCue, Molly E ^a   Valberg, Stephanie J ^a   Miller, Michael B ^b   Wade, Claire ^c   DiMauro, Salvatore ^d   Akman, Hasan O ^d   Mickelson, James R ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d NewYork Presbyterian Hospital   (United States)

Author keywords

Gain of function mutation; Genome wide association; Glycogen storage disease; Glycogen synthase; Horse; Polysaccharide storage myopathy

Indexed keywords

ARGININE; GLYCOGEN SYNTHASE; HISTIDINE;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CAUSAL ATTRIBUTION; CONTROLLED STUDY; DNA SEQUENCE; GENE FUNCTION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; GROUPS BY AGE; HAPLOTYPE; HORSE; NONHUMAN; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; GENE FREQUENCY; GENOME; GLYCOGEN STORAGE DISEASE; GLYCOGEN SYNTHASE; HAPLOTYPES; HORSE DISEASES; HORSES; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE;

ANIMALIA; EQUIDAE;

EID: 42049111858     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2008.01.011     Document Type: Article

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