Metherell, Louise A <br/><br/>
Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.  [electronic resource] 

 -  Endocrine research  Nov 2004 
 - 889-90 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>0743-5800 
<br/><br/><label>Standard No.: </label>10.1081/erc-200044136  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenine<br/>Chromosomes, Human, Pair 21<br/>Glucocorticoids--deficiency<br/>Guanine<br/>Homozygote<br/>Humans<br/>Introns<br/>Mutation<br/>Protein Transport--genetics<br/>Steroid Metabolism, Inborn Errors--genetics<br/>Thymine