Another the fresh new locus (laid out by the rs1034200) is 5 kb regarding AVGR8 gene,20798666:Here is the earliest studies to spot the fresh new COL5A1 BstUI RFLP because the a marker for emergency running performance. The brand new COL5A1 gene get transform muscle-tendon stiffness. Lung biopsy indicating you to alpha1(V)epitopes is actually launched.
Pep5-8 so you’re able to alpha1,2(V) and you may pep9-14 to alpha2(V)had been immunodominant
Ehlers-Danlos disorder, vintage particular, disease:Problems inside the COL5A1 is a cause of Ehlers-Danlos problem method of step 1 (EDS1) [MIM:130000]; also known as Ehlers-Danlos problem gravis otherwise major vintage types of Ehlers-Danlos disorder. (mais…)