Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi)

Recently, a new type of limb-girdle muscular dystrophy (LGMD type 2Z) has been identified due to a missense mutation in POGLUT1 (protein O-glucosyltransferase- Rumi), an enzyme capable of adding glucose to a distinct serine residue of epidermal growth factor-like repeats containing a C-X-S-X-(P/A)-C...

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Veröffentlicht in:Stem Cell Res
Hauptverfasser: Wu, Jianbo, Hunt, Samuel D., Matthias, Nadine, Servián-Morilla, Emilia, Lo, Jonathan, Jafar-Nejad, Hamed, Paradas, Carmen, Darabi, Radbod
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5679726/
https://ncbi.nlm.nih.gov/pubmed/29034878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.scr.2017.08.020
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