Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV

Periodic paralysis in Quarter Horses: a sodium channel mutation disseminated by selective breeding

Jeffrey A. Rudolph, Sharon J. Spier, G. Byrns et al. · Nature Genetics · 1992 · 289 citations

Natural Sciences, Animal Sciences, Veterinary Physiology +16

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Yizhong Bao, Priya S. Kishnani, J.-Y. Wu et al. · Journal of Clinical Investigation · 1996 · 168 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation

E K Shin, L E Perryman, Katheryn Meek · The Journal of Immunology · 1997 · 164 citations

Life Sciences, Genetics, Molecular Biology +13

Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses

Elizabeth M. Santschi, Amanda K. Purdy, Stephanie J. Valberg et al. · Mammalian Genome · 1998 · 160 citations

Agriculture, Animal Sciences, Veterinary Physiology +5

Familial cirrhosis of the liver with storage of abnormal glycogen.

Andersen Dh · PubMed · 2003 · 160 citations

Medicine, Internal Medicine, Pathology +13