Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers. Jalali-Sefid-Dashti, M, Nel, M, Heckmann, J M, & Gamieldien, J BMC Medical Genetics, 2018. Paper doi bibtex @article{Jalali-Sefid-Dashti2018,
annote = {Export Date: 24 October 2018},
author = {Jalali-Sefid-Dashti, M and Nel, M and Heckmann, J M and Gamieldien, J},
doi = {10.1186/s12881-018-0613-x},
journal = {BMC Medical Genetics},
number = {1},
title = {{Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers}},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85048280165{\&}doi=10.1186{\%}2Fs12881-018-0613-x{\&}partnerID=40{\&}md5=48bfaba9a1b042a1fba51f48d361f602},
volume = {19},
year = {2018}
}
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