Bröer, Stefan

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