Amati-Bonneau, Patrizia <br/><br/>
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.  [electronic resource] 

 -  Annals of neurology  Dec 2005 
 - 958-63 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0364-5134 
<br/><br/><label>Standard No.: </label>10.1002/ana.20681  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Animals<br/>Audiometry<br/>Child<br/>Cochlea--metabolism<br/>Cricetinae<br/>Female<br/>Fibroblasts--metabolism<br/>GTP Phosphohydrolases--genetics<br/>Genotype<br/>Hearing Loss, Sensorineural--genetics<br/>Humans<br/>Male<br/>Mitochondria--metabolism<br/>Optic Atrophy, Autosomal Dominant--genetics<br/>Oxygen Consumption<br/>Phenotype<br/>Point Mutation<br/>Skin--cytology