Al-Eitan, Laith <br/><br/>
Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B).  [electronic resource] 

 -  Gene  Jul 2020 
 - 144683 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1879-0038 
<br/><br/><label>Standard No.: </label>10.1016/j.gene.2020.144683  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Child<br/>Fatal Outcome<br/>Female<br/>Humans<br/>Infant<br/>Jordan<br/>Male<br/>Mutation--genetics<br/>Niemann-Pick Disease, Type A--enzymology<br/>Niemann-Pick Disease, Type B--enzymology<br/>Pedigree<br/>Sphingomyelin Phosphodiesterase--chemistry