共 50 条
- [46] Compound heterozygous PMP22 deletion mutations causing severe Charcot–Marie–Tooth disease type 1 Journal of Human Genetics, 2010, 55 : 771 - 773
- [48] Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease FRONTIERS IN NEUROLOGY, 2020, 11
- [49] Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication INHERITED NEUROMUSCULAR DISEASES: TRANSLATION FROM PATHMECHANISMS TO THERAPIES, 2009, 652 : 183 - 200
- [50] Distinct phenotypes associated with increasing dosage of the PLP gene:: Implications for CMT1A due to PMP22 gene duplication CHARCOT-MARIE-TOOTH DISORDERS, 1999, 883 : 234 - 246