Omim phex
WebPHEX (HGNC:8918) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar HGNC Name phosphate regulating endopeptidase homolog X-linked Gene type protein-coding gene Locus type gene with protein product Previous symbols HYP, HPDR Alias symbols PEX, HPDR1, HYP1, XLH %HI 6.97(Read more about the … WebRationale: X-linked dominant hypophosphatemia rickets (XLH, OMIM 307800) is the most common hereditary hypophosphatemic rickets and characterized by growth retardation, skeletal malformations, dental dysplasia, spontaneous fractures and osteomalacia. PHEX gene was identified for XLH and novel mutations were consistent with loss of function
Omim phex
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WebOMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced... WebPHEX Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, PHEX Genome Browser, PHEX References ... OMIM 300550 Transcript ENST00000379374.4 …
WebDatabase Description. PHEXdb is a relational locus-specific database for mutations in the PHEX gene. The latter are responsible for X-linked hypophosphatemia (XLH) (OMIM … WebX‑linked hypophosphatemic rickets (XLHR; OMIM 307800) is an X‑linked dominant disorder caused by mutations in the phosphate‑regulating neutral endopeptidase homolog …
Web26. apr 2024. · PHEX peptidase Other names Per g.p. ( Mus musculus ), PEX [obs.] g.p. ( Homo sapiens ), PHEX g.p. ( Homo sapiens ), phosphate-regulating gene with homologies to endopeptidase on the X chromosome
Web08. sep 2011. · Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH)2D) serum levels. The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene. The …
Web26. feb 2024. · X-linked hypophosphatemia (also known as X-linked hypophosphatemic rickets, XLH; OMIM: #307800) is an inherited disease of phosphate metabolism, where … harbor freight tools impact screwdriverWebRationale: X-linked dominant hypophosphatemia rickets (XLH, OMIM 307800) is the most common hereditary hypophosphatemic rickets and characterized by growth retardation, … harbor freight tools in allentown paWebINSEE /Postal code. 65334 /65100. Elevation. 409–1,133 m (1,342–3,717 ft) (avg. 450 m or 1,480 ft) 1 French Land Register data, which excludes lakes, ponds, glaciers > 1 km 2 … harbor freight tools hydraulic lift tablehttp://www.icgeb.res.in/whotdr/cd1/PreCourseReading/NAR_DB2003/www3.oup.co.uk/nar/database/summary/145.html chandigarh sharepoint.comWeb17. feb 2024. · X-linked hypophosphataemia (XLH) is an X-linked dominant rare disease that refers to the most common hereditary hypophosphatemia (HH) caused by mutations in the phosphate-regulating endopeptidase homolog X-linked gene (PHEX; OMIM: * 300550).However, mutations that have already been reported cannot account for all … harbor freight tools inWebDatabase Description. PHEXdb is a relational locus-specific database for mutations in the PHEX gene. The latter are responsible for X-linked hypophosphatemia (XLH) (OMIM 307800), a dominant disorder of phosphate homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal … chandigarh sf expressWeb25. jun 2024. · Arii et al. (2010) showed that nonmuscle myosin heavy chain IIA (NMHC-IIA), a subunit of nonmuscle myosin IIA (NM-IIA), functions as a herpes simplex virus-1 (HSV … harbor freight tools in altus oklahoma