| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6224665 | The Journal of Pediatrics | 2011 | 5 Pages |
Abstract
We identified c.1521_1523delCTT and c.1679+94_2619+986del8118 in trans in a 6-year-old boy with a severe cystic fibrosis phenotype. The first deletion was inherited maternally, but the latter had arisen de novo.
Keywords
Related Topics
Health Sciences
Medicine and Dentistry
Perinatology, Pediatrics and Child Health
Authors
Aleksandra PhD, Marta BSc, Agnieszka PhD, Katarzyna MSc, Hanna MD, PhD, Marta MSc,