Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.
Soma Das(University of California, San Francisco), Seymour Packman(University of California, San Francisco), Barbara Levinson(Howard Hughes Medical Institute), Chris D. Vulpe(University of California, Berkeley), Susan Whitney(University of California, San Francisco), Jane Gitschier
PubMed
March 1, 1995
Cited by 134
Related Papers
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase
|Nature Genetics|1993|1.4k
Agalsidase-Beta Therapy for Advanced Fabry Disease
|Annals of Internal Medicine|2007|565
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
|New England Journal of Medicine|2016|555
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
|Nephrology Dialysis Transplantation|2009|366
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
|Journal of Medical Genetics|2015|363