| First Author | Engelen J | Year | 1992 |
| Journal | Cytogenet Cell Genet | Volume | 60 |
| Issue | 3-4 | Pages | 208-9 |
| PubMed ID | 1505217 | Mgi Jnum | J:2045 |
| Mgi Id | MGI:50569 | Doi | 10.1159/000133338 |
| Citation | Engelen J, et al. (1992) Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype. Cytogenet Cell Genet 60(3-4):208-9 |
| abstractText | Aspartylglucosaminuria (AGU) is a recessive autosomally inherited lysosomal storage disorder due to deficiency of the enzyme aspartylglucosaminidase (AGA). The structural gene for this human enzyme (AGA) has been assigned to the region 4q21----qter. We determined the AGA activity in cultured fibroblasts of a girl with a 46,XX,del(4)(q33) karyotype. The results indicate that the girl is a hemizygote for AGA, permitting the assignment of human AGA to the region 4q33----qter. |
