SPTBN2
Pathology
beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5)
See also
SPTs | SPTAs | SPTBs |
References
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Durr A, Zuhlke C, Burk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006 Feb;38(2):184-190. PMID: #16429157#