Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease
Author:
Publisher
Edizioni Minerva Medica
Subject
Pediatrics, Perinatology and Child Health
Link
https://www.minervamedica.it/pdf.php?cod=R15Y2023N01A0032
Reference16 articles.
1. Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease
2. Invited Article: An MRI-based approach to the diagnosis of white matter disorders
3. Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-Like Disease 1, and Related Hypomyelinating Disorders
4. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
5. Multiplex Ligation-Dependent Probe Amplification for Rapid Detection of Proteolipid Protein 1 Gene Duplications and Deletions in Affected Males and Carrier Females with Pelizaeus–Merzbacher Disease
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1. Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47;Biomolecules;2023-04-21
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