A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact

Muscle and Nerve

Volumn 22, Issue 8, 1999, Pages 1136-1138

  Gamez, Josep ^a   Fernandez, Roberto ^b,c   Bruno, Claudio ^b,d   Andreu, Antonio L ^a,b   Cervera, Carlos ^a   Navarro, Carmen ^c   Schwartz, Simon ^a   Dimauro, Salvatore ^b  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b College of Physicians and Surgeons ^*  (United States)

^c HOSPITAL DO MEIXOEIRO   (Spain)

^d UNIVERSITY OF GENOA   (Italy)

Author keywords

McArdle's disease; Mutation; Myophosphorylase

Indexed keywords

DIMER; GLYCOGEN PHOSPHORYLASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CODON; EXON; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN;

GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MIDDLE AGED; MUSCLES; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; SPAIN;

EID: 0032799182     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199908)22:8<1136::AID-MUS21>3.0.CO;2-2     Document Type: Article

References (12)

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