Author:
Aguirre Luis A.,Pérez-Bas Manuel,Villamar Manuela,López-Ariztegui M. Asunción,Moreno-Pelayo Miguel A.,Moreno Felipe,del Castillo Ignacio
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference7 articles.
1. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22;Tranebjaerg;J Med Genet,1995
2. Tranebjærg L. Deafness–Dystonia-Optic Neuronopathy Syndrome (updated 3 April 2008). In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2008. Available from: http://www.genetests.org. (accessed 14.8.2008).
3. A novel Xlinked gene, DDP, shows mutations in families with deafness (DFN1), dystonia, mental deficiency and blindness;Jin;Nat Genet,1996
4. Human deafness–dystonia syndrome is a mitochondrial disease;Koehler;Proc Natl Acad Sci USA,1999
5. A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness–dystonia (Mohr–Tranebjaerg) syndrome;Aguirre;Am J Med Genet,2006
Cited by
15 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献