Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog

Molecular and Cellular Probes

Volumn 26, Issue 6, 2012, Pages 243-247

  Inal Gultekin, G ^a   Raj, K ^a   Lehman, S ^a   Hillstrom A ^b   Giger, U ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

Author keywords

Dog; Hemolytic anemia; Hereditary disease; Myopathy; Red cell defect

Indexed keywords

6 PHOSPHOFRUCTOKINASE; ARGININE; COMPLEMENTARY DNA; EDETIC ACID; GENOMIC DNA; MUSCLE ENZYME; RNA; TRYPTOPHAN;

ALPHA HELIX; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; HUMAN; MALE; MISSENSE MUTATION; MUSCLE TYPE PHOSPHOFRUCTOKINASE DEFICIENCY; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; DOG DISEASES; DOGS; FEMALE; GENETIC ASSOCIATION STUDIES; GLYCOGEN STORAGE DISEASE TYPE VII; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHOSPHOFRUCTOKINASES;

ANIMALIA; CANIS FAMILIARIS;

EID: 84868199324     PISSN: 08908508     EISSN: 10961194     Source Type: Journal    
DOI: 10.1016/j.mcp.2012.02.004     Document Type: Article

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