Majumdar, Ramanath <br/><br/>
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.  [electronic resource] 

 -  Molecular genetics & genomic medicine  11 2017 
 - 795-799 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>2324-9269 
<br/><br/><label>Standard No.: </label>10.1002/mgg3.333  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Sequence<br/>Ammonia-Lyases--genetics<br/>Codon, Nonsense<br/>Frameshift Mutation<br/>Gene Deletion<br/>Genotype<br/>Glutamate Formimidoyltransferase--deficiency<br/>Humans<br/>Metabolism, Inborn Errors--diagnosis<br/>Mutation, Missense<br/>Open Reading Frames--genetics<br/>Polymorphism, Single Nucleotide