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pro vyhledávání: '"Mana Khojasteh"'
Publikováno v:
Molecular Syndromology. :1-11
Introduction: Homozygous and compound heterozygous variants in GJC2, the gene encoding connexin-47 protein, cause Pelizaeus-Merzbacher-like disease type 1 or hypomyelinating leukodystrophy 2 (HLD2), a severe infantile-onset hypomyelinating leukodystr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e51586fa0c52755783874ea5693fdbf
https://doi.org/10.1159/000529678
https://doi.org/10.1159/000529678
