Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.

Human mutation

Volumn 27, Issue 6, 2006, Pages 600-601

  Lucchiari, S ^a   Pagliarani, S ^a   Salani, S ^a   Filocamo, M ^a   Di Rocco, M ^a   Melis, D ^a   Rodolico, C ^a   Musumeci, O ^a   Toscano, A ^a   Bresolin, N ^a   Comi, G P ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN DEBRANCHING ENZYME;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHEMISTRY; CHILD; CLASSIFICATION; FEMALE; FRAMESHIFT MUTATION; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 3; HEPATOMEGALY; HUMAN; ITALY; MALE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR GENETICS; MUSCLE DISEASE; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; SEQUENCE ALIGNMENT; STOP CODON;

ADULT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HEPATOMEGALY; HUMANS; ITALY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DISEASES; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE ALIGNMENT;

EID: 33745305424     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9426     Document Type: Article

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