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The lateral meningocele syndrome mutation causes marked osteopenia in mice

Lateral meningocele syndrome (LMS) is a rare genetic disorder characterized by neurological complications and osteoporosis. LMS is associated with mutations in exon 33 of NOTCH3 leading to a truncated protein lacking sequences for NOTCH3 degradation and presumably causing NOTCH3 gain of function. To...

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Vydáno v:J Biol Chem
Hlavní autoři: Canalis, Ernesto, Yu, Jungeun, Schilling, Lauren, Yee, Siu-Pok, Zanotti, Stefano
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6130932/
https://ncbi.nlm.nih.gov/pubmed/30042232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.004242
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