The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
May. 09, 2006
Filed:
May. 08, 2001
Ehud Goldin, Rockville, MD (US);
Susan A. Slaugenhaupt, Quincy, MA (US);
Mei Sun, Rockville, MD (US);
James S. Acierno, Jr., Quincy, MA (US);
Ehud Goldin, Rockville, MD (US);
Susan A. Slaugenhaupt, Quincy, MA (US);
Mei Sun, Rockville, MD (US);
James S. Acierno, Jr., Quincy, MA (US);
The ML4 Foundation, Brooklyn, NY (US);
The General Hospital Corporation, Boston, MA (US);
Abstract
The present invention relates to identification of a gene that is inactivated in a mucolipidosis condition. In particular, the invention concerns mutations that disrupt a mucolipin, preferably MCOLN1, in mucolipidosis IV. Recombinant nucleic acids encoding mutant forms of MCOLN1, oligonucleotides specific for such mutations, and diagnostic and therapeutic applications related to these discoveries, are also contemplated.