Alyssa B. Becker, BA Jiang Qian, MD, PhD Benjamin B. Gelman, MD, PhD Michele Yang, MD Peter Bauer, MD Arnulf H. Koeppen, MD; Journal of Neuropathology & Experimental Neurology, Volume 76, Issue 8, 1 August 2017, Pages 665–675, doi:10.1093/jnen/nlx047
The pathologic phenotype in homozygous and compound heterozygous FA is determined by residual frataxin levels rather than unique mutations.
Thursday, August 10, 2017
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