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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 ...
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]
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 ...
SafetyLit Foundation [129] in cooperation with the Graduate School of Public Health, San Diego State University [130] and the World Health Organization's Department of Violence and Injury Prevention [131] SciELO: Journals SciELO is a bibliographic database and a model for cooperative electronic publishing in developing countries originally from ...
TexShare Databases - Registered users of Texas libraries have these online research tools available to them both inside the library and 24-hour-a-day access outside the library in their homes or offices. The TexShare online resources provide full-text articles from journals, newspapers, magazines, and many other sources, on-line books, and ...
The Albert B. Alkek Library is the architectural centerpiece and intellectual hub of the Texas State University San Marcos campus. It offers library patrons the opportunity to explore, create and discover in an expansive seven-story building that is packed with resources, technology and spaces for quiet or collaborative research and study.
The University of Texas at San Antonio Libraries (UTSA Libraries) is the academic library of The University of Texas at San Antonio, a state research university in San Antonio, Texas, United States. UTSA Libraries consists of the John Peace Library (JPL) on the Main Campus, the Downtown Library, and the Applied Engineering and Technology (AET ...
The reading room in Uris Library at Cornell University. The United States contains some of the largest academic libraries in the world. Among the most notable collections are those at Harvard University, the University of Michigan, Yale University, the University of Illinois at Urbana–Champaign, and Columbia University. Many others were ...