| Title: |
Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome |
| Authors: |
Filatova, Alexandra; Freire Chadrina, Maria; Lozier, Ekaterina; Konovalov, Fedor; Bessonova, Ludmila; Iudina, Elena; Gnetetskaya, Valentina; Kanivets, Ilya; Korostelev, Sergey; Skoblov, Mikhail |
| Source: |
Clinical Genetics, 95 (3), 440-441 (2018-11-28) |
| Publisher Information: |
Wiley |
| Publication Year: |
2018 |
| Collection: |
University of Liège: ORBi (Open Repository and Bibliography) |
| Subject Terms: |
Life sciences; Genetics & genetic processes; Sciences du vivant; Génétique & processus génétiques |
| Description: |
peer reviewed |
| Document Type: |
article in journal/newspaper; other non-article part of journal/newspaper |
| Language: |
English |
| ISSN: |
0009-9163; 1399-0004 |
| Relation: |
urn:issn:0009-9163; urn:issn:1399-0004; https://orbi.uliege.be/handle/2268/258925; info:hdl:2268/258925; https://orbi.uliege.be/bitstream/2268/258925/1/Novel%20KIAA1109%20variants%20affecting%20splicing%20in%20a%20Russian%20family%20with%20ALKURAYA%e2%80%90KU%c4%8cINSKAS%20syndrome.pdf; info:pmid:30485398 |
| DOI: |
10.1111/cge.13472 |
| Availability: |
https://orbi.uliege.be/handle/2268/258925; https://orbi.uliege.be/bitstream/2268/258925/1/Novel%20KIAA1109%20variants%20affecting%20splicing%20in%20a%20Russian%20family%20with%20ALKURAYA%e2%80%90KU%c4%8cINSKAS%20syndrome.pdf; https://doi.org/10.1111/cge.13472 |
| Rights: |
open access ; http://purl.org/coar/access_right/c_abf2 ; info:eu-repo/semantics/openAccess |
| Accession Number: |
edsbas.AD9C7D91 |
| Database: |
BASE |