Milà, M <br/><br/>
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.  [electronic resource] 

 -  Human genetics  Oct 1996 
 - 419-21 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0340-6717 
<br/><br/><label>Standard No.: </label>10.1007/s004390050232  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Atlantic Islands<br/>Chromosome Mapping<br/>Female<br/>Fragile X Mental Retardation Protein<br/>Fragile X Syndrome--genetics<br/>Genetic Carrier Screening<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Methylation<br/>Mutation<br/>Nerve Tissue Proteins--genetics<br/>Pedigree<br/>RNA-Binding Proteins--genetics<br/>Reference Values<br/>Trinucleotide Repeats<br/>X Chromosome