Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome
- 1 December 2000
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 23 (8) , 847-848
- https://doi.org/10.1023/a:1026773005303
Abstract
No abstract availableThis publication has 2 references indexed in Scilit:
- A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemiaHuman Genetics, 1997
- Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase geneJournal of Inherited Metabolic Disease, 1996