Author/Editor     Sergouniotis, Panagiotis I.; Robson, Anthony G.; El-Asrag, Mohammed E.; Ali, Manir; Holder, Graham; Black, Graeme C. M.; Webster, Andrew R.; Plagnol, Vincent
Title     Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype
Type     članek
Vol. and No.     Letnik 389, št. spec. iss. 1
Publication year     2017
Volume     str. 14
ISSN     1474-547X - Lancet
Language     eng
Keywords     retinal dystrophy
genomic investigations
sequencing
distrofija mrežnice
genomske raziskave
sekvenciranje