Quartier, Angélique <br/><br/>
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.  [electronic resource] 

 -  European journal of human genetics : EJHG  04 2017 
 - 423-431 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Meta-Analysis; Systematic Review 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2016.204  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Female<br/>Fragile X Mental Retardation Protein--genetics<br/>Fragile X Syndrome--diagnosis<br/>Humans<br/>Male<br/>Middle Aged<br/>Mutation<br/>Polymorphism, Single Nucleotide<br/>RNA Splicing<br/>Siblings