Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12 - Kanwal, Sumaira, Kongju National University, Gongju, Republic of Korea; Choi, B.O., Ewha Womans University, School of Medicine, Seoul, Republic of Korea; Kim, S.B., Kyung Hee University, School of Medicine, Seoul, Republic of Korea; Koo, H.S., Ewha Womans University, School of Medicine, Seoul, Republic of Korea; Kim, J.Y., Ewha Womans University, School of Medicine, Seoul, Republic of Korea; Hyun, Y.S., Kongju National University, Gongju, Republic of Korea; Lee, H.J., Kongju National University, Gongju, Republic of Korea; Chung, K.W., Kongju National University, Gongju, Republic of Korea (Animal cells and systems, 2011)
Keywords: Charcot-Marie-Tooth disease type 1A; Charcot-Marie-Tooth disease type 1A (CMT1A); copy number variation; copy number variation (CNV); FENOTIPOS; Genes; Genetics; Heterogeneity; nonrecurrent rearrangements; PHENOTYPE; PHENOTYPES; Phenotypic variations; PMP22; 생물학