GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease

OBJECTIVE: Pelizaeus-Merzbacher-like disease is a rare hypomyelinating leukodystrophy caused by autosomal recessive mutations in GJC2, encoding a gap junction protein essential for production of a mature myelin sheath. A previously identified GJC2 mutation (c.-167G>A) in the promoter region is hy...

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Main Authors: Gotoh, Leo, Inoue, Ken, Helman, Guy, Mora, Sara, Maski, Kiran, Soul, Janet S., Bloom, Miriam, Evans, Sarah H, Goto, Yu-ichi, Caldovic, Ljubica, Hobson, Grace M., Vanderver, Adeline
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4183365/
https://ncbi.nlm.nih.gov/pubmed/24374284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.12.001
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