MOLECULAR GENETIC ANALYSIS OF THE PLP1 GENE IN 38 FAMILIES WITH PLP1-RELATED DISORDERS: IDENTIFICATION AND FUNCTIONAL CHARACTERIZATION OF 11 NOVEL PLP1 MUTATIONS

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Abstract Background The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin luce chandelier proteolipid protein (PLP).PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to i

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Case report: Bilateral panuveitis resembling Vogt-Koyanagi-Harada disease after second dose of BNT162b2 mRNA COVID-19 vaccine

Coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remains a serious pandemic.COVID-19 vaccination is urgent needed for limiting SARS-CoV-2 outbreaks by herd immunity.Simultaneously, post-marketing surveillance to assess vaccine safety is important, and collection of vaccine-related adverse ev

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Lingual Solitary Squamous Cell Papilloma

An 11-years-old child attended the Department of Maxillofacial Surgery complaining of a painless tongue lesion two months ago.Besides, he was complaining of oral foreign body sensation.He denied a history of taking drugs and no family history of the same problem.Intraoral clinical examination showed soft, non-tender mass over the dorsum of the tong

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Methods of estimating: Clean fleece production

The squeeze machine method as evaluated for use on California and Texas wools, while not as accurate as the side sample method, is much easier, quicker, and less expensive.The animals can be rated in order of clean wool production more accurately than by grease weight, for high-shrinking wools.Rating of animals in this manner allows the breeder to

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