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| A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder |
| Sajad Rafiee Komachali, Mozhgan Sheikholeslami, Mansoor Salehi |
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Genomics Inform. 2022;20(2):e24 Published online June 30, 2022 DOI: https://doi.org/10.5808/gi.22008 |
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A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder Genomics & Informatics. 2022;20(2):e24  Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation Molecular Genetics and Metabolism Reports. 2017;11:6-7 Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene neurogenetics. 2017;18(3):135-139 A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence Human Genome Variation. 2017;4(1): Novel mutations of POLR3A Gene caused hypomyelinating leukodystrophy type 7 (HLD7) in a Chinese family: a Case Report . 2019; A new mutation in GJC2 associated with subclinical leukodystrophy Journal of Neurology. 2014;261(10):1929-1938 Hypomyelinating Leukodystrophy 7 (HLD7)-Associated Mutation of POLR3A Is Related to Defective Oligodendroglial Cell Differentiation, Which Is Ameliorated by Ibuprofen Neurology International. 2021;14(1):11-33 Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen Neurology International. 2022;14(1):212-244 Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia Biomedicines. 2022;10(7):1709 Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation Human Mutation. 2000;16(4):375-376 |
