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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2013
विषय:
Article
ऑनलाइन पहुंच: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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