Karges, Beate <br/><br/>
Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.  [electronic resource] 

 -  The Journal of clinical endocrinology and metabolism  Apr 2003 
 - 1873-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0021-972X 
<br/><br/><label>Standard No.: </label>10.1210/jc.2002-020005  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Alanine<br/>Binding Sites<br/>Cell Line<br/>Embryo, Mammalian<br/>Gene Expression<br/>Humans<br/>Hydrogen Bonding<br/>Hypogonadism--genetics<br/>Kidney<br/>Male<br/>Models, Molecular<br/>Mutation<br/>Pedigree<br/>Protein Conformation<br/>Receptors, LHRH--chemistry<br/>Signal Transduction<br/>Structure-Activity Relationship<br/>Threonine<br/>Type C Phospholipases--metabolism