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