Premium
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia
Author(s) -
Huang K
Publication year - 2010
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2010.01519_2.x
Subject(s) - genetics , ataxia , mutation , gene , mitochondrial dna , biology , external ophthalmoplegia , neuroscience
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Di Bella et al. (2010) Nature Genetics 42(4): 313–321