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PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
Since 2009, most researchers use a different nomenclature based on the gene defect (e.g. CDG-Ia = PMM2-CDG, CDG-Ib = PMI-CDG, CDG-Ic = ALG6-CDG etc.). [33] The reason for the new nomenclature was the fact that proteins not directly involved in glycan synthesis (such as members of the COG-family [ 34 ] and vesicular H+-ATPase) [ 35 ] were found ...
5373 54128 Ensembl n/a ENSMUSG00000022711 UniProt O15305 Q9Z2M7 RefSeq (mRNA) NM_000303 NM_016881 NM_001362485 RefSeq (protein) NP_000294 NP_058577 NP_001349414 Location (UCSC) n/a Chr 16: 8.46 – 8.48 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene. Function Phosphomannomutase 2 catalyzes the isomerization ...
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Solid Converter PDF is document reconstruction software from Solid Documents which converts PDF files to editable formats. Originally released for the Microsoft Windows operating system, a Mac OS X version was released in 2010. The current versions are Solid Converter PDF 9.0 for Windows and Solid PDF to Word for Mac 2.1.
Poppler is a free and open-source software library for rendering Portable Document Format (PDF) documents. Its development is supported by freedesktop.org . Commonly used on Linux systems, [ 4 ] it powers the PDF viewers of the GNOME and KDE desktop environments .
Zamzar is an online file converter and compressor, created by brothers Mike and Chris Whyley in England in 2006. [1] [2] It allows users to convert files online, without downloading a software tool, and supports over 1,200 different conversion types. [3]
CC PDF Converter was a free and open-source program that allowed users to convert documents into PDF files on Microsoft Windows operating systems, while embedding a Creative Commons license. [1] [2] The application leveraged RedMon and Ghostscript and was licensed under the GNU GPL. A 2013 review in PC World gave the software 4 out of 5 stars. [2]
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