Arikawa-Hirasawa, Eri <br/><br/>
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.  [electronic resource] 

 -  American journal of human genetics  May 2002 
 - 1368-75 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/340390  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Genotype<br/>Heparan Sulfate Proteoglycans--chemistry<br/>Humans<br/>Infant<br/>Male<br/>Mutation--genetics<br/>Myotonic Disorders--complications<br/>Osteochondrodysplasias--complications<br/>Phenotype<br/>Structure-Activity Relationship