PMC Links for Nucleotide (Select 293597530) - PMC

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Items: 5

Select item 11467691.

Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation.

Y Ben-Yoseph, M Potier, B A Pack, D A Mitchell, S B Melançon, H L Nadler

Biochem J. 1986 May 1; 235(3): 883–886. doi: 10.1042/bj2350883

PMCID:: PMC1146769

Summary Page Browse PDF–661K

Select item 2891692.

Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

Annick Raas-Rothschild, Valerie Cormier-Daire, Ming Bao, Emmanuelle Genin, Remi Salomon, Kevin Brewer, Marsha Zeigler, Hanna Mandel, Steve Toth, Bruce Roe, Arnold Munnich, William M. Canfield

J Clin Invest. 2000 Mar 1; 105(5): 673–681. doi: 10.1172/JCI5826

PMCID:: PMC289169

Abstract Article PDF–605K

Select item 51212893.

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling

Renata Voltolini Velho, Taciane Alegra, Fernanda Sperb, Nataniel Floriano Ludwig, Maria Luiza Saraiva-Pereira, Ursula Matte, Ida V.D. Schwartz

Mol Genet Metab Rep. 2014; 1: 98–102. Published online 2014 Feb 27. doi: 10.1016/j.ymgmr.2014.01.002

PMCID:: PMC5121289

Abstract Article PDF–382K

Select item 49298734.

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes

M Hashim Raza, Carlos E F Domingues, Ronald Webster, Eduardo Sainz, Emily Paris, Rachel Rahn, Joanne Gutierrez, Ho Ming Chow, Jennifer Mundorff, Chang-soo Kang, Naveeda Riaz, Muhammad A R Basra, Shaheen Khan, Sheikh Riazuddin, Danilo Moretti-Ferreira, Allen Braun, Dennis Drayna

Eur J Hum Genet. 2016 Apr; 24(4): 529–534. Published online 2015 Jul 1. doi: 10.1038/ejhg.2015.154

PMCID:: PMC4929873

Abstract Article PDF–253K

Select item 44981575.

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site

Renata Voltolini Velho, Raffaella De Pace, Sarah Klünder, Fernanda Sperb-Ludwig, Charles Marques Lourenço, Ida V. D. Schwartz, Thomas Braulke, Sandra Pohl

Hum Mol Genet. 2015 Jun 15; 24(12): 3497–3505. Published online 2015 Mar 18. doi: 10.1093/hmg/ddv100