Associated Papers
Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.
Bu H et al.
Bmc Pediatrics, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG2
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
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
Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.
Hoffman-Zacharska D et al.
Brain & Development, 2013
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