| 释义 |
- References
- Further reading
- External links
{{Infobox_gene}}Bardet-Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.[1]Mutations in this gene are associated with the Bardet-Biedl syndrome.[1] References 1. ^1 {{cite journal | vauthors = Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H | title = Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome | journal = Am. J. Hum. Genet. | volume = 80 | issue = 1 | pages = 1–11 |date=January 2007 | pmid = 17160889 | pmc = 1785304 | doi = 10.1086/510256 | url = }}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Marion V, Stoetzel C, Schlicht D |title=Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=106 |issue= 6 |pages= 1820–5 |year= 2009 |pmid= 19190184 |doi= 10.1073/pnas.0812518106 |pmc=2635307 |display-authors=etal|url=http://www.hal.inserm.fr/inserm-00370150/document }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241 |display-authors=etal}}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
{{refend}}External links- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome]
- {{MeshName|Bbs12+protein,+human|3=Bbs12 protein, human}}
- {{UCSC gene info|BBS12}}
{{Ciliary proteins}}{{gene-4-stub}} |