Li, Dong-Xiao <br/><br/>
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.  [electronic resource] 

 -  World journal of pediatrics : WJP  04 2018 
 - 197-203 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article 
<br/><br/><label>ISSN: </label>1867-0687 
<br/><br/><label>Standard No.: </label>10.1007/s12519-018-0135-9  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Asian People--genetics<br/>Child<br/>Child, Preschool<br/>China<br/>DNA Mutational Analysis<br/>Female<br/>Genetic Predisposition to Disease<br/>Homocystinuria--diagnosis<br/>Humans<br/>Male<br/>Methionine Sulfoxide Reductases--genetics<br/>Microfilament Proteins<br/>Mutation, Missense<br/>Predictive Value of Tests<br/>Retrospective Studies<br/>Sampling Studies<br/>Severity of Illness Index<br/>Transcription Factors--genetics