Klebe, Stephan <br/><br/>
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.  [electronic resource] 

 -  European journal of human genetics : EJHG  Jun 2012 
 - 645-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2011.261  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Chromosome Mapping<br/>Chromosomes, Human, Pair 2--genetics<br/>Family<br/>Genes, Recessive<br/>Genetic Heterogeneity<br/>Homozygote<br/>Humans<br/>Kinesins--genetics<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Spastic Paraplegia, Hereditary--genetics