Motozaki, Yuko <br/><br/>
Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study.  [electronic resource] 

 -  Journal of the neurological sciences  Sep 2007 
 - 236-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0022-510X 
<br/><br/><label>Standard No.: </label>10.1016/j.jns.2007.03.021  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amyloid Neuropathies, Familial--complications<br/>Brain--metabolism<br/>Carpal Tunnel Syndrome--genetics<br/>DNA Mutational Analysis<br/>Eye Diseases, Hereditary--genetics<br/>Fatal Outcome<br/>Female<br/>Genetic Predisposition to Disease--genetics<br/>Genetic Testing<br/>Genotype<br/>Humans<br/>Male<br/>Meninges--metabolism<br/>Middle Aged<br/>Mutation--genetics<br/>Myocardium--metabolism<br/>Pedigree<br/>Peripheral Nerves--metabolism<br/>Phenotype<br/>Prealbumin--genetics<br/>Viscera--metabolism<br/>Vitreous Body--pathology