Katsumata, N <br/><br/>
Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia.  [electronic resource] 

 -  Human mutation  1998 
 - S304-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1059-7794 
<br/><br/><label>Standard No.: </label>10.1002/humu.1380110195  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adrenal Hyperplasia, Congenital--genetics<br/>Adult<br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Base Sequence<br/>DNA--chemistry<br/>DNA Mutational Analysis<br/>Female<br/>Frameshift Mutation<br/>Humans<br/>Japan<br/>Phosphoproteins--genetics<br/>Point Mutation<br/>Polymorphism, Genetic<br/>Sequence Deletion<br/>Steroidogenic Acute Regulatory Protein