Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics-Reference-Cited by-同舟云学术

Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics

Published:2009-12-23 Issue:1 Volume:152A Page:124-132
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pohl Sandra,Encarnacão Marisa,Castrichini Monica,Müller-Loennies Sven,Muschol Nicole,Braulke Thomas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33170/fullpdf

Reference35 articles.

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3. Molecular analysis of the GlcNac-1-phosphotransferase;Braulke;J Inherit Metab Dis,2008

4. Molecular order in mucolipidosis II and III nomenclature;Cathey;Am J Med Genet Part A,2008

5. Molecular analysis of the GNPTAB and GNPTG genes in 13 Patients with mucolipidosis type II or type III-identification of eight novel mutations;Encarnacão;Clin Genet,2009

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