U.S. flag

An official website of the United States government

Display Settings:

Format
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 4

1.
The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa
Jason Comander, Carol Weigel-DiFranco, Matthew Maher, Emily Place, Aliete Wan, Shyana Harper, Michael A. Sandberg, Daniel Navarro-Gomez, Eric A. Pierce
Genes (Basel) 2017 Oct; 8(10): 256. Published online 2017 Oct 5. doi: 10.3390/genes8100256
PMCID:
PMC5664106
AbstractArticlePDF–4.9M
2.
Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)
Hao Hu, Christoph Hübner, Zoltan Lukacs, Luciana Musante, Esther Gill, Thomas F Wienker, Hans-Hilger Ropers, Ellen Knierim, Markus Schuelke
Eur J Hum Genet. 2017 Feb; 25(2): 253–256. Published online 2016 Nov 9. doi: 10.1038/ejhg.2016.149
PMCID:
PMC5255949
AbstractArticlePDF–1.0M
3.
Analysis of the Biogenesis of Heparan Sulfate Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Provides Insights into the Mechanism Underlying Its Complete Deficiency in Mucopolysaccharidosis IIIC
Stéphanie Durand, Matthew Feldhammer, Éric Bonneil, Pierre Thibault, Alexey V. Pshezhetsky
J Biol Chem. 2010 Oct 8; 285(41): 31233–31242. Published online 2010 Jul 22. doi: 10.1074/jbc.M110.141150
PMCID:
PMC2951197
AbstractArticlePDF–1.8M
4.
Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C
Matthew Feldhammer, Stéphanie Durand, Alexey V. Pshezhetsky
PLoS One. 2009; 4(10): e7434. Published online 2009 Oct 13. doi: 10.1371/journal.pone.0007434
PMCID:
PMC2757673
AbstractArticlePDF–392K

Display Settings:

Format
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center