Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by PLP1 mutations. A similar autosomal-recessive phenotype, Pelizaeus-Merzbacher-like disease (PMLD), has been shown to be caused by homozygous mutations in GJC2 or HSPD1. We report a consanguineous Israeli Bedouin kin...

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Autores principales: Feinstein, Miora, Markus, Barak, Noyman, Iris, Shalev, Hannah, Flusser, Hagit, Shelef, Ilan, Liani-Leibson, Keren, Shorer, Zamir, Cohen, Idan, Khateeb, Shareef, Sivan, Sara, Birk, Ohad S.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2010
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2997381/
https://ncbi.nlm.nih.gov/pubmed/21092922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.10.016
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