Lugenbeel, K A <br/><br/>
Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome.  [electronic resource] 

 -  Nature genetics  Aug 1995 
 - 483-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1061-4036 
<br/><br/><label>Standard No.: </label>10.1038/ng0895-483  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Cell Line, Transformed<br/>DNA<br/>Fragile X Mental Retardation Protein<br/>Fragile X Syndrome--genetics<br/>Humans<br/>Male<br/>Molecular Sequence Data<br/>Nerve Tissue Proteins--genetics<br/>Point Mutation<br/>RNA-Binding Proteins