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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 ...
A prevalence rate of 0.61 per 1,000 and 1.05 per 1,000 live births respectively was reported by Croen, Shaw, Wasserman and Tolarova (1998). In Malawi there is a reported low prevalence rate for cleft lip and/or palate, 0.7 per 1,000 live births (Chisi, Igbibi, & Msamati, 2000). Suleiman et al. (2005) found that the prevalence rate of clefting ...
The prevalence of African Americans with diabetes is estimated to triple by 2050, while the prevalence of white Americans is estimated to double. [3] The overall prevalence increases with age, with the largest increase in people over 65 years of age. [3] The prevalence of diabetes in America is estimated to increase to 48.3 million by 2050. [3]
Relative risks are affected by the prevalence of the condition in the reference group (in contrast to likelihood ratios, which are not), and this issue results in that the validity of post-test probabilities become less valid with increasing difference between the prevalence in the reference group and the pre-test probability for any individual.
On July 21, 2023, the OMB delineated 7 combined statistical areas, 22 metropolitan statistical areas, and 6 micropolitan statistical areas in Florida. [ 1 ] [ 2 ] As of 2023, the largest of these is the Miami-Port St. Lucie-Fort Lauderdale, FL CSA , inclusive of the southeastern region of the state centered on Miami .
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