Schoenmakers, Erik <br/><br/>
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.  [electronic resource] 

 -  The Journal of clinical investigation  Dec 2010 
 - 4220-35 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1558-8238 
<br/><br/><label>Standard No.: </label>10.1172/JCI43653  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Amino Acid Sequence<br/>Animals<br/>Azoospermia--genetics<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Codon, Nonsense<br/>DNA--genetics<br/>Female<br/>Hearing Loss, Sensorineural--genetics<br/>Humans<br/>Insulin Resistance--genetics<br/>Male<br/>Mice<br/>Middle Aged<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Muscular Dystrophies--genetics<br/>Mutation<br/>Mutation, Missense<br/>Pedigree<br/>Photosensitivity Disorders--genetics<br/>RNA-Binding Proteins--chemistry<br/>Reactive Oxygen Species--metabolism<br/>Selenocysteine--metabolism<br/>Selenoproteins--deficiency<br/>Sequence Homology, Amino Acid<br/>Spermatogenesis--genetics<br/>T-Lymphocytes--immunology