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A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder |
Sajad Rafiee Komachali, Mozhgan Sheikholeslami, Mansoor Salehi |
Genomics Inform. 2022;20(2):e24 Published online June 30, 2022 DOI: https://doi.org/10.5808/gi.22008 |
A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence Novel mutations of POLR3A Gene caused hypomyelinating leukodystrophy type 7 (HLD7) in a Chinese family: a Case Report A new mutation in GJC2 associated with subclinical leukodystrophy Hypomyelinating Leukodystrophy 7 (HLD7)-Associated Mutation of POLR3A Is Related to Defective Oligodendroglial Cell Differentiation, Which Is Ameliorated by Ibuprofen Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation |