| 词条 | ANO3 |
| 释义 |
Clinical significanceMutations in ANO3 have been linked to a form of autosomal dominant cranio-cervical dystonia (also known as DYT23), which presents as abnormal twisting or tremulous movements of the face, voice, head and upper limbs.[3] References1. ^{{cite web | title = Entrez Gene: ANO3 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=63982| accessdate = }} 2. ^{{cite journal |vauthors=Tian Y, Schreiber R, Kunzelmann K | title = Anoctamins are a family of Ca2+-activated Cl+− channels | journal = Journal of Cell Science | year = 2012 | volume = 125 | issue = 21 | pages = 4991–4998 | doi = 10.1242/jcs.109553 }} 3. ^{{cite journal |vauthors=Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW | title = Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis | journal = American Journal of Human Genetics | year = 2012 | volume = 91 | issue = 6 | pages = 1041–1050 | doi = 10.1016/j.ajhg.2012.10.024 | pmid=23200863 | pmc=3516598}} External links{{Gene-11-stub}} 1 : Genes on human chromosome 11 |
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