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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

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A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder
Genomics & Informatics. 2022;20(2):e24   Crossref logo
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Defective myelination in mice harboring hypomyelinating leukodystrophy-associated HSPD1 mutation
Molecular Genetics and Metabolism Reports. 2017;11:6-7   Crossref logo
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Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
neurogenetics. 2017;18(3):135-139   Crossref logo
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A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence
Human Genome Variation. 2017;4(1):   Crossref logo
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Novel mutations of POLR3A Gene caused hypomyelinating leukodystrophy type 7 (HLD7) in a Chinese family: a Case Report
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A new mutation in GJC2 associated with subclinical leukodystrophy
Journal of Neurology. 2014;261(10):1929-1938   Crossref logo
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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   Crossref logo
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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   Crossref logo
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Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia
Biomedicines. 2022;10(7):1709   Crossref logo
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Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation
Human Mutation. 2000;16(4):375-376   Crossref logo
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