단백질
바르데-비들 증후군 1 단백질 은 인간에서 BBS1 유전자 에 의해 암호화된 단백질 이다. [5] [6] [7] BBS1은 Ciliogenesis 에 필요한 BBSome 단지의 일부다. 이 유전자의 돌연변이는 바르데-비들 증후군 의 주요 형태(유형 1)를 가진 환자들에게서 관찰되었다.
역사 2008년[update] [7] [needs update
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000174483 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000000064 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA (May 1997). "Bardet–Biedl syndrome: a molecular and phenotypic study of 18 families" . J Med Genet . 34 (2): 92–8. doi :10.1136/jmg.34.2.92 . PMC 1050859 PMID 9039982 . ^ Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (Feb 2003). "Identification of a novel Bardet–Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2" . Am J Hum Genet . 72 (3): 650–8. doi :10.1086/368204 . PMC 1180240 PMID 12567324 . ^ a b "Entrez Gene: BBS1 Bardet–Biedl syndrome 1" .
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