| First Author | Frecker M | Year | 1978 |
| Journal | Hum Genet | Volume | 45 |
| Issue | 2 | Pages | 167-73 |
| PubMed ID | 216625 | Mgi Jnum | J:22883 |
| Mgi Id | MGI:71376 | Doi | 10.1007/BF00286958 |
| Citation | Frecker M, et al. (1978) Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies. Hum Genet 45(2):167-73 |
| abstractText | Gene dosage studies yielded results consistent with assignment of the locus for nucleoside phosphorylase to band 14q13. The red blood cells from a patient with the karyotype 47,XX,+der(14),t(8;14)(8qter leads to 8q24::14q21 leads to 14pter)pat had enzyme activity 50% higher than red cells from 47 normal controls, two trisomies involving chromosomes other than 14, and five balanced translocations involving chromosome 14. On the other hand, the red cells of a case with a karyotype 45,XX,-14,-22+der(22),t(14;22)(14qter leads to 14q11 or 14q12::22p11 leads to 22qter)mat and a case with a a karyotype 47,XX,+der(14),t(14;16)(14pter leads to 14q11::16q24 leads to 16qter)mat had normal activity |
