Majer, Filip <br/><br/>
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?  [electronic resource] 

 -  American journal of medical genetics. Part A  11 2018 
 - 2430-2434 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.40430  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Base Sequence<br/>Child<br/>DNA Copy Number Variations--genetics<br/>Exons--genetics<br/>Family<br/>Female<br/>Glycogen Storage Disease Type IIb--genetics<br/>Heterozygote<br/>Humans<br/>Lysosomal-Associated Membrane Protein 2--genetics<br/>Male<br/>Pedigree<br/>Young Adult