Author/Editor     Ellingford, Jamie M; Sergouniotis, Panagiotis I.; Lennon, Rachel; Bhaskar, Sanjeev S; Williams, Simon G; Hillman, Kate A; O'Sullivan, James; Hall, Georgina; Ramsden, Simon C.
Title     Pinpointing clinical diagnosis through whole exome sequencing to direct patient care
Type     članek
Vol. and No.     Letnik 385, št. 9980
Publication year     2015
Volume     str. 1916
ISSN     0140-6736 - The Lancet
Language     eng
Keywords     sindrom Senior-Loken
retinalna distrofija
sekvenciranje
Senior-Loken syndrome
retinal dystrophy
sequencing