Associated Papers
Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.
Duan R et al.
Orphanet Journal of Rare Diseases, 2022
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
Ji H et al.
Plos One, 2018
A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.
Lu Y et al.
Human Genome Variation, 2017
28101371 (PubMed )
Supplement: hgv201644-s1.doc
Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.
Xie H et al.
Brain & Development, 2015
Select a paper to view details