4 new genetic mutations were recently found: LOX : This gene of the 5-Lysyl oxidase family is involved in initiating of cross-linking of Elastin and Collagen. The mutation leads to cardiovascular, respiratory and bone symptoms, especially fractures. This is why it was initially considered to be a new type of osteogenesis imperfecta (glass bones disorder). […]
Even if I cannot tell you more since publications have not yet taken place, I am very happy and proud of our researchers who work on Cutis Laxa : 5 NEW MUTATIONS have just been discovered. For all patients whose precise type has not yet been identified, this is an extraordinary chance. You can be tested […]
NEW MUTATIONS
/in Mutations, News, Research, Research - Medicine - Genetics /by Marie-Claude4 new genetic mutations were recently found: LOX : This gene of the 5-Lysyl oxidase family is involved in initiating of cross-linking of Elastin and Collagen. The mutation leads to cardiovascular, respiratory and bone symptoms, especially fractures. This is why it was initially considered to be a new type of osteogenesis imperfecta (glass bones disorder). […]
NEW MUTATIONS
/in Mutations, News, Research, Research - Medicine - Genetics /by Marie-ClaudeEven if I cannot tell you more since publications have not yet taken place, I am very happy and proud of our researchers who work on Cutis Laxa : 5 NEW MUTATIONS have just been discovered. For all patients whose precise type has not yet been identified, this is an extraordinary chance. You can be tested […]