First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient

Human Mutation

Volumn 16, Issue 6, 2000, Pages 467-472

  Morisaki, Hiroko ^a   Higuchi, Itsuro ^b   Abe, Mayumi ^b   Osame, Mitsuhiro ^b   Morisaki, Takayuki ^a,c  

^a NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY   (Japan)

Author keywords

AMP deaminase; Genetic disorder; Metabolism; Mutation; Purine

Indexed keywords

ADENOSINE MONOPHOSPHATE DEAMINASE; GENE PRODUCT;

ADULT; ALLELE; ARTICLE; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HUMAN; JAPAN; MISSENSE MUTATION; MUSCLE METABOLISM; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROKARYOTE; RACE; SEQUENCE ANALYSIS; SKELETAL MUSCLE;

ADULT; AMP DEAMINASE; ARGININE; FEMALE; HETEROZYGOTE DETECTION; HISTIDINE; HUMANS; JAPAN; MIDDLE AGED; MUSCULAR DISEASES; MUTATION, MISSENSE; TRANSFECTION; TRYPTOPHAN;

EID: 0034537169     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200012)16:6<467::AID-HUMU3>3.0.CO;2-V     Document Type: Article

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