Cov neeg tseem ceeb hauv qhov kev tshawb pom yog Sharon Terry (uas tuav cov noob patent) thiab Drs. Jouni Uitto thiab Arthur Bergen. Lawv tau txheeb xyuas cov noob rau ntawm caj npab luv ntawm chromosome 16. Cov noob tau raug xaiv los ua MRP6 gene nyob rau hauv kev siv rau MRP6 protein, tab sis qhov tsim nyog yog ABCC6 noob.
YPseudoxanthoma puas muaj Elasticum?
Pseudoxanthoma elasticum (PXE) yog kev mob hnyavuas yog tus cwj pwm los ntawm kev sib sau ntawm calcium thiab lwm yam minerals (mineralization) hauv elastic fibers. Elastic fibers yog ib feem ntawm cov ntaub so ntswg sib txuas, uas muab lub zog thiab yooj yim rau cov qauv thoob plaws hauv lub cev.
Yuav kho Pseudoxanthoma Elasticum yog dab tsi?
Hmoov tsis zoo, tsis muaj kev kho rau pseudoxanthoma elasticum. Cov tib neeg raug cuam tshuam raug pom zoo kom kuaj lub cev tsis tu ncua nrog lawv tus kws kho mob thawj zaug thiab kuaj qhov muag niaj hnub nrog tus kws kho qhov muag (ophthalmologist) uas paub txog cov teeb meem ntawm lub qhov muag.
PXE Ophthalmology yog dab tsi?
Pseudoxanthoma elasticum (PXE) yog tsis tshua muaj kab mob caj cestus yam ntxwv los ntawm elastorrhexia, lossis nce calcification thiab fragmentation, ntawm elastic fibers feem ntau cuam tshuam rau ntawm daim tawv nqaij, retina, thiab cov hlab plawv.
R1141X kev hloov pauv txhais li cas?
Frequent Mutation hauv ABCC6 Gene (R1141X) YogKoom nrog Kev Txhim Kho Zoo Tshaj Plaws ntawm Kab Mob Coronary Artery. Mieke D. Trip, MD.
