Identification of the CFTR p. Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient.
| Autor: | Dharajiya, N, Chisholm, KM, Dietz, L, Sue Richards, C, Kharrazi, M, Schrijver, I |
|---|---|
| Předmět: | |
| Zdroj: | Clinical Genetics; Jun2013, Vol. 83 Issue 6, p598-599, 2p, 1 Diagram |
| Abstrakt: | A letter to the editor is presented regarding the discovery in a Hispanic patient of the cystic fibrosis transmembrane conductance regulator (CFTR) p.Phe508Del mutation with no polythymidine 9T allele. |
| Databáze: | Complementary Index |
| Externí odkaz: |
|
Plný text