@article{8299477fb2f3474789e9fe9c34ef5af1,
title = "Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling",
author = "{UK10K Consortium} and Kate Baker and Gordon, {Sarah L.} and Detelina Grozeva and {Van Kogelenberg}, Margriet and Roberts, {Nicola Y.} and Michael Pike and Edward Blair and Hurles, {Matthew E.} and Chong, {W. Kling} and Torsten Baldeweg and Kurian, {Manju A.} and Boyd, {Stewart G.} and Cousin, {Michael A.} and Raymond, {F. Lucy}",
year = "2015",
month = apr,
day = "1",
doi = "10.1172/JCI79765",
language = "English",
volume = "125",
pages = "1670--1678",
journal = "Journal of Clinical Investigation",
issn = "0021-9738",
publisher = "The American Society for Clinical Investigation",
number = "4",
}