Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)

New England Journal of Medicine

Volumn 329, Issue 4, 1993, Pages 241-245

  Tsujino, Seiichi ^a   Shanske, Sara ^a   Dimauro, Salvatore ^a  

^a New York Presbyterian Hospital Columbia University Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EXERCISE TOLERANCE; FEMALE; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MALE; MUSCLE CRAMP; MYOGLOBINURIA; PATHOGENESIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REGULATOR GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA; EXONS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE V; HUMAN; INFANT; MALE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; MUSCLES; PHOSPHORYLASES; POINT MUTATION; POLYMERASE CHAIN REACTION; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0027194215     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM199307223290404     Document Type: Article

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