McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

Human mutation

Volumn 27, Issue 7, 2006, Pages 718-

  Bruno, Claudio ^a   Cassandrini, Denise ^a   Martinuzzi, Andrea ^a   Toscano, Antonio ^a   Moggio, Maurizio ^a   Morandi, Lucia ^a   Servidei, Serena ^a   Mongini, Tiziana ^a   Angelini, Corrado ^a   Musumeci, Olimpia ^a   Comi, Giacomo P ^a   Lamperti, Costanza ^a   Filosto, Massimiliano ^a   Zara, Federico ^a   Minetti, Carlo ^a  

^a UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADOLESCENT; ADULT; AGED; ALLELE; AMINO ACID SEQUENCE; ARTICLE; CHILD; COHORT ANALYSIS; FEMALE; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; ITALY; MALE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AGED; ALLELES; AMINO ACID SEQUENCE; CHILD; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; ITALY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, PROTEIN;

EID: 33746760273     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9434     Document Type: Article

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