Author/Editor | Steele-Stallard, Heather B; Stabej, Polona; Lenassi, Eva; Luxon, Linda M.; Claustres, Mireille; Roux, Anne-Francoise; Webster, Andrew R.; Bitner-Glindzicz, Maria | |
Title | Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing | |
Type | članek | |
Vol. and No. | Letnik 8, št. 122 | |
Publication year | 2013 | |
Volume | str. [1-11] | |
ISSN | 1750-1172 - Orphanet journal of rare diseases | |
Language | eng | |
Keywords | Usher syndrome inherited deaf-blindness |