BBS12 Information & BBS12 Links at HealthHaven.com

Bardet-Biedl syndrome 12, also known as BBS12 is a human gene.^[1]

Mutations in this gene are associated with the Bardet-Biedl syndrome.^[1]

[edit] References

^ ^a ^b 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 (January 2007). "Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome". Am. J. Hum. Genet. 80 (1): 1–11. doi:10.1086/510256. PMID 17160889.

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