WebGenes: ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, DSE, FKBP14, FLNA, P3H1, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469 ( 22 genes ) Coverage: 96% at … WebEhlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.
Ehlers-Danlos Syndrome NGS Panel Fulgent Genetics
WebNormal Function The COL4A1 gene provides instructions for making one component of type IV collagen, which is a flexible protein important in the structure of many tissues throughout the body. Specifically, this gene makes the alpha1 (IV) chain of type IV collagen. WebBiallelic mutation in the COL3A1 gene causes polymicrogyria with or without vascular EDS (PMGVEDS; 618343 ). Description ttd room rates
Ehlers Danlos Syndromes - Symptoms, Causes, Treatment NORD
WebThe COL6A2 gene provides instructions for making one component of type VI collagen, which is a flexible protein found in the space that surrounds cells. Specifically, the protein produced from the COL6A2 gene is the alpha (α)2 (VI) chain of type VI collagen. WebTAADNext is a comprehensive analysis of 35 genes associated with TAAD and related disorders. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using ... WebCOL3A1 (Collagen type III alpha-1 chain mutations) Wikipedia (Type-III collagen entry) Enzyme and pathway databases. PathwayCommons. P02461; ... GeneReviews. COL3A1; HGNC. HGNC:2201 COL3A1; HPA. ENSG00000168542 Tissue enhanced (cervix, gallbladder, placenta, smooth muscle) MIM. 120240 gene; 130050 phenotype; 618343 … phoenix american hospitality investor reviews