Donkervoort, S <br/><br/>
Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.  [electronic resource] 

 -  Clinical genetics  Apr 2014 
 - 393-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, N.I.H., Intramural 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.12185  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>Child, Preschool<br/>Female<br/>Founder Effect<br/>Humans<br/>Male<br/>Mixed Function Oxygenases--genetics<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Siblings<br/>Spastic Paraplegia, Hereditary--etiology