Elsayed, Liena E O <br/><br/>
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.  [electronic resource] 

 -  BMC medical genetics  05 2018 
 - 72 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/s12881-018-0592-y  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>Female<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>Group VI Phospholipases A2--genetics<br/>Homozygote<br/>Humans<br/>Infant<br/>Male<br/>Mutation<br/>Neuroaxonal Dystrophies--genetics<br/>RNA Splice Sites<br/>Siblings<br/>Sudan<br/>Exome Sequencing--methods