A modifier of Niemann Pick C 1 maps to mouse Chromosome 19

A modifier of Niemann Pick C 1 maps to mouse Chromosome 19 Short Communications Incorporating Mouse Genome Mammalian Genome 11, 69–71 (2000). © Springer-Verlag New York Inc. 2000 1,2 1,2 Jingsong Zhang, Robert P. Erickson Genetics Committee, University of Arizona, Tucson, Arizona 85724, USA Angel Charity for Children—Wings for Genetic Research, Steele Memorial Children’s Research Center, Department of Pediatrics, 1501 N. Campbell Avenue, P.O. Box 245073, Section of Medical and Molecular Genetics, University of Arizona College of Medicine, Tucson, Arizona 85724-5073, USA Received: 25 June 1999 / Accepted: 16 September 1999 Niemann-Pick disease type C (NPC) is a disorder of intracellular cholesterol trafficking with neurological and hepatic symptoms. It is an autosomal recessive disorder which presents, usually in child- hood, with coordination problems, dysarthria, and paralysis of up- ward gaze, although prolonged neonatal jaundice or unexplained hepatitis may have been noted earlier (Heidenreich and Erickson 1997). In the early 1980s, two independent reports (Miyawaki et al. 1982; Pentchev et al. 1980) described mouse mutations that caused a new cholesterol storage disease with neurological mani- festations. These mutations are now known to represent the murine equivalent of NPC. Pentchev and colleagues recognized the rela- tionship to Niemann-Pick disease (Pentchev et al. 1980; Morris et al. 1982) while Miyawaki and colleagues described the http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Mammalian Genome Springer Journals

A modifier of Niemann Pick C 1 maps to mouse Chromosome 19

Loading next page...
Copyright © 2000 by Springer-Verlag New York Inc.
Life Sciences; Cell Biology; Anatomy; Zoology
Publisher site
See Article on Publisher Site

There are no references for this article.

You’re reading a free preview. Subscribe to read the entire article.

DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 12 million articles from more than
10,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

Monthly Plan

  • Read unlimited articles
  • Personalized recommendations
  • No expiration
  • Print 20 pages per month
  • 20% off on PDF purchases
  • Organize your research
  • Get updates on your journals and topic searches


Start Free Trial

14-day Free Trial

Best Deal — 39% off

Annual Plan

  • All the features of the Professional Plan, but for 39% off!
  • Billed annually
  • No expiration
  • For the normal price of 10 articles elsewhere, you get one full year of unlimited access to articles.



billed annually
Start Free Trial

14-day Free Trial