Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication

Por Liu, Pengfei, Gelowani, Violet, Zhang, Feng, Drory, Vivian E., Ben-Shachar, Shay, Roney, Erin, Medeiros, Adam C., Moore, Rebecca J., DiVincenzo, Christina, Burnette, William B., Higgins, Joseph J., Li, Jun, Orr-Urtreger, Avi, Lupski, James R.
Publicado em 2014

The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy

Por DiVincenzo, Christina, Elzinga, Christopher D, Medeiros, Adam C, Karbassi, Izabela, Jones, Jeremiah R, Evans, Matthew C, Braastad, Corey D, Bishop, Crystal M, Jaremko, Malgorzata, Wang, Zhenyuan, Liaquat, Khalida, Hoffman, Carol A, York, Michelle D, Batish, Sat D, Lupski, James R, Higgins, Joseph J
Publicado no Mol Genet Genomic Med (2014)