Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma

Title
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 30, Issue 6, Pages 978-984
Publisher
Wiley
Online
2008-12-25
DOI
10.1002/humu.20959

Ask authors/readers for more resources

Discover Peeref hubs

Discuss science. Find collaborators. Network.

Join a conversation

Ask a Question. Answer a Question.

Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.

Get Started