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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 ...
The Florida State University College of Education, Health, and Human Sciences is one of sixteen colleges comprising the Florida State University (FSU). The College has roots that reach back to the West Florida Seminary and the State Normal College for Teachers. [ 2 ]
The Florida State University College of Medicine provides third- and fourth-year clinical training at regional medical school campuses in Orlando, Pensacola, Sarasota, Tallahassee, Ft. Pierce, and Daytona Beach, Florida. [12] There are rural training sites in Marianna and Immokalee, Florida, in addition to Thomasville, Georgia. [13]
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.
A year ago, the Miami-Dade School Board, under then-Superintendent Alberto Carvalho, defied the governor’s ban on school mask mandates, requiring students and staff to wear facial coverings for ...
Also in 1955, the school's football team had its first winning year, and the school started its first marching band. In 1955-6, the school greatly increased the activities available to the students. Until 2001, the school was located on the FSU campus. In 2001, the new Florida High building in Southwood was opened.