Yamada, Y <br/><br/>
Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio).  [electronic resource] 

 -  The Japanese journal of human genetics  Dec 1993 
 - 413-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0916-8478 
<br/><br/><label>Standard No.: </label>10.1007/BF01907988  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>DNA Primers<br/>Female<br/>Humans<br/>Hypoxanthine Phosphoribosyltransferase--deficiency<br/>Japan<br/>Lesch-Nyhan Syndrome--ethnology<br/>Male<br/>Molecular Sequence Data<br/>Point Mutation<br/>RNA Splicing