Eugene D Carstea - Woburn MA, US Danilo A. Tagle - Gaithersburg MD, US Jill A. Morris - Chalfont PA, US Peter G. Pentchev - Kensington MD, US William J. Pavan - Derwood MD, US Melissa A. Ashlock - Mont Vernon NH, US Stacie K. Loftus - Burtonsville MD, US Jessie Gu - Cambridge MA, US
Assignee:
The United States of America as represented by the Department of Health and Human Services - Washington DC
A gene for type C Niemann-Pick disease (NP-C) is disclosed, along with the amino acid sequence of the encoded peptide. Applications which are made possible by the present invention include detection of NP-C carriers and diagnosis of NP-C sufferers. The murine ortholog of the human gene is also disclosed.
Eugene D. Carstea - Woburn MA Danilo A. Tagle - Gaithersburg MD Jill A. Morris - Chalfont PA Peter G. Pentchev - Kensington MD William J. Pavan - Derwood MD Melissa A. Ashlock - Mont Vernon NH Stacie K. Loftus - Burtonsville MD Jessie Gu - Cambridge MA
Assignee:
The United States of America as represented by the Secretary of the Department of Health and Human Services - Washington DC
A gene for type C Niemann-Pick disease (NP-C) is disclosed, along with the amino acid sequence of the encoded peptide. Applications which are made possible by the present invention include detection of NP-C carriers and diagnosis of NP-C sufferers. The murine ortholog of the human gene is also disclosed.