Avtor/Urednik     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.
Naslov     Pinpointing clinical diagnosis through whole exome sequencing to direct patient care
Tip     članek
Vol. in št.     Letnik 385, št. 9980
Leto izdaje     2015
Obseg     str. 1916
ISSN     0140-6736 - The Lancet
Jezik     eng
Proste vsebinske oznake     sindrom Senior-Loken
retinalna distrofija
sekvenciranje
Senior-Loken syndrome
retinal dystrophy
sequencing