Open Access Highly Accessed Research article

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

Bassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, Joseph G Gleeson and Lihadh Al-Gazali*

BMC Medical Genetics 2012, 13:80  doi:10.1186/1471-2350-13-80

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