Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. [electronic resource]
- The Journal of clinical investigation Dec 2008
- 3881-92 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0021-9738
10.1172/JCI36625 doi
Alleles Amino Acid Transport Disorders, Inborn--genetics Amino Acid Transport Systems, Neutral--genetics Family Female Glycine Plasma Membrane Transport Proteins--genetics Humans Male Mutation Pedigree Penetrance