Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein

“Hypomyelination and Congenital Cataract”, HCC (MIM #610532), is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination. HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet. Since the iden...

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Bibliografiska uppgifter
Huvudupphovsmän: Gazzerro, Elisabetta, Baldassari, Simona, Giacomini, Caterina, Musante, Veronica, Fruscione, Floriana, La Padula, Veronica, Biancheri, Roberta, Scarfì, Sonia, Prada, Valeria, Sotgia, Federica, Duncan, Ian D., Zara, Federico, Werner, Hauke B., Lisanti, Michael P., Nobbio, Lucilla, Corradi, Anna, Minetti, Carlo
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2012
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3312879/
https://ncbi.nlm.nih.gov/pubmed/22461884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0032180
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