نتایج جستجو برای: merzbacher
تعداد نتایج: 317 فیلتر نتایج به سال:
Citation: Schmid M, Merzbacher S, Brzoska N, Müller K and Jesdinszki M (2017) Improvement of Food PackagingRelated Properties of Whey Protein Isolate-Based Nanocomposite Films and Coatings by Addition of Montmorillonite Nanoplatelets. Front. Mater. 4:35. doi: 10.3389/fmats.2017.00035 improvement of Food Packagingrelated Properties of Whey Protein isolate-Based nanocomposite Films and coatings b...
Genome rearrangements are a hallmark of human genomic disorders and occur largely through recombination mechanisms. In this issue, Lee et al. (2007) show that the complex nonrecurrent rearrangements observed in the dysmyelinating disorder Pelizaeus-Merzbacher disease (PMD) are likely to be caused by a replication mechanism involving template switching.
Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by mutations or rearrangements in PLP1. It presents in infancy with nystagmus, jerky head movements, hypotonia and developmental delay evolving into spastic tetraplegia with optic atrophy and variable movement disorders. A clinically similar phenotype caused by recessive mutations in GJC2 is known as Pelizaeus-Mer...
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