Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Human mutation

Volumn 29, Issue 6, 2008, Pages

  Kroos, Marian ^a   Pomponio, Robert J ^a   van Vliet, Laura ^a   Palmer, Rachel E ^a   Phipps, Michael ^a   Van der Helm, Robert ^a   Halley, Dicky ^a   Reuser, Arnold ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE; GAA PROTEIN, HUMAN;

ANIMAL; ARTICLE; CELL STRAIN COS1; CERCOPITHECUS; EXON; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 2; HAMSTER; HOSPITALIZATION; HUMAN; INTRON; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; SITE DIRECTED MUTAGENESIS;

ALPHA-GLUCOSIDASES; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; CRICETINAE; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC PREDISPOSITION TO DISEASE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INTRONS; MUTAGENESIS, SITE-DIRECTED; MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 47049105911     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.20745     Document Type: Article

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