Humpath.com - Human pathology - Photos - pictures - videos

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#