Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical FindingsAbstract
| Title | Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical FindingsAbstract |
| Publication Type | Journal Article |
| Year of Publication | 2019 |
| Authors | Gogou, M., Damianidou L., Papageorgiou T., Tragiannidis A., Haidopoulou K., Giannopoulos A., & Hatzipantelis E. |
| Journal | Journal of Pediatric Genetics |
| Volume | 08 |
| Issue | 01 |
| Pagination | 033 - 037 |
| Date Published | Feb-03-2020 |
| ISSN | 2146-4596 |
| URL | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1670724http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0038-1670724.pdf |
| DOI | 10.1055/s-0038-1670724 |
| Short Title | J Pediatr Genet |
