Literature DB >> 9788732

A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.

M E Hodes, A Aydanian, S R Dlouhy, D T Whelan, T Heshka, G Ronen.   

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Year:  1998        PMID： 9788732     DOI： 10.1111/j.1399-0004.1998.tb04295.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.

Authors:  Serena Grossi; Stefano Regis; Roberta Biancheri; Matthew Mort; Susanna Lualdi; Enrico Bertini; Graziella Uziel; Odile Boespflug-Tanguy; Alessandro Simonati; Fabio Corsolini; Ercan Demir; Valentina Marchiani; Antonio Percesepe; Franco Stanzial; Andrea Rossi; Catherine Vaurs-Barrière; David N Cooper; Mirella Filocamo
Journal:  Orphanet J Rare Dis       Date:  2011-06-16       Impact factor: 4.123

2.  Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes.

Authors:  Yuko Numasawa-Kuroiwa; Yohei Okada; Shinsuke Shibata; Noriyuki Kishi; Wado Akamatsu; Masanobu Shoji; Atsushi Nakanishi; Manabu Oyama; Hitoshi Osaka; Ken Inoue; Kazutoshi Takahashi; Shinya Yamanaka; Kenjiro Kosaki; Takao Takahashi; Hideyuki Okano
Journal:  Stem Cell Reports       Date:  2014-04-24       Impact factor: 7.765
  2 in total

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