A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats

Molecular Genetics and Metabolism

Volumn 90, Issue 4, 2007, Pages 383-392

  Fyfe, John C ^a   Kurzhals, Rebeccah L ^a   Hawkins, Michelle G ^b   Wang, Ping ^b   Yuhki, Naoya ^c   Giger, Urs ^b   Van Winkle, Thomas J ^b   Haskins, Mark E ^b   Patterson, Donald F ^b   Henthorn, Paula S ^b  

^a Center for Comparative Medicine and Translational Research   (United States)

^b UNIVERSITY OF PENNSYLVANIA SCHOOL OF VETERINARY MEDICINE   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Branching enzyme; Enzymopathy; Genomic rearrangement; Glycogen storage; Glycogenosis; Hypoglycemia; Neuromuscular degeneration

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; MESSENGER RNA;

ADOLESCENT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; COLLAPSE; CONTROLLED STUDY; CROSS REACTION; FEMALE; GENE REARRANGEMENT; GLYCOGEN STORAGE DISEASE TYPE 4; HYPOGLYCEMIC COLLAPSE; KITTEN; NEUROMUSCULAR DISEASE; NONHUMAN; NORWAY; NUCLEOTIDE SEQUENCE; PERINATAL MORBIDITY; PRIORITY JOURNAL;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; ALTERNATIVE SPLICING; ANIMALS; BASE SEQUENCE; BREEDING; CATS; EXONS; FEMALE; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE IV; HYPOGLYCEMIA; LIVER; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEUROMUSCULAR DISEASES; PEDIGREE;

ANIMALIA; FELIDAE;

EID: 33947589436     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.12.003     Document Type: Article

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