Kornak, Uwe <br/><br/>
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.  [electronic resource] 

 -  Brain : a journal of neurology  Mar 2014 
 - 683-92 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2156 
<br/><br/><label>Standard No.: </label>10.1093/brain/awt357  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Age of Onset<br/>Bone Diseases--etiology<br/>Cohort Studies<br/>Cough--genetics<br/>Endoplasmic Reticulum--genetics<br/>Exome--genetics<br/>Female<br/>Fractures, Bone--genetics<br/>GTP Phosphohydrolases--genetics<br/>Gastroesophageal Reflux--genetics<br/>Genes, Dominant--genetics<br/>Haplotypes--genetics<br/>Hereditary Sensory and Autonomic Neuropathies--complications<br/>Humans<br/>Intracellular Space--genetics<br/>Male<br/>Mutation<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Phenotype<br/>Young Adult