Henseler, M <br/><br/>
Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.  [electronic resource] 

 -  American journal of human genetics  Jan 1996 
 - 65-74 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Base Sequence<br/>Cell Line<br/>Child<br/>Child, Preschool<br/>Cricetinae<br/>DNA Primers<br/>Exons<br/>Female<br/>Genes, Recessive<br/>Glycoproteins--biosynthesis<br/>Glycosylation<br/>Humans<br/>Kidney<br/>Leukodystrophy, Metachromatic--genetics<br/>Male<br/>Molecular Sequence Data<br/>Point Mutation<br/>Polymerase Chain Reaction<br/>RNA Splicing<br/>RNA, Messenger--metabolism<br/>Recombinant Proteins--biosynthesis<br/>Reference Values<br/>Saposins<br/>Sequence Deletion<br/>Sphingolipid Activator Proteins<br/>Transfection