Search results
Results from the WOW.Com Content Network
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 ...
The following is a list of accredited colleges and universities in the U.S. state of Florida.Many of these schools have multiple campuses, and therefore only the location of the main campus in Florida is specified.
The Florida Board of Governors was created in 2003 to centralize the administration of the State University System of Florida. Previously, Florida's State University System had been governed by the Florida Board of Regents (1965–2001) and the Florida Board of Control (1905–1965).
The University of Florida Health Science Center (HSC), also known as the J. Hillis Miller Health Science Center, is the medical division of the University of Florida. Its primary campuses are located on the university's main campus in Gainesville, Florida and at UF Health at Jacksonville in Jacksonville, Florida .
Public universities and colleges in Florida (15 C, 18 P) People by university or college in Florida (28 C) Defunct universities and colleges in Florida (2 C, 1 P)
Florida State University (FSU or Florida State) is a public research university in Tallahassee, Florida, United States. It is a senior member of the State University System of Florida and a preeminent university in the state. [15] Chartered in 1851, it is located on Florida's oldest continuous site of higher education. [16] [2]