| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8964820 | Journal of Cystic Fibrosis | 2018 | 5 Pages |
Abstract
In our cohort, the Q359K/T360K mutation resulted in a severe CF phenotype, although with residual early CFTR function. The CFTR2 database should consider defining this mutation as CF-causing.
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Authors
Mei-Zahav M., Stafler P., Senderowitz H., Bentur L., Livnat G., Shteinberg M., Orenstein N., Bazak L., Prais D., Levine H., Gur M., Khazanov N., Simhaev L., Eliyahu H., Cohen M., Wilschanski M., Blau H., Mussaffi H.,