Literature DB >> 27639779

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

Lorena Travaglini1, Chiara Aiello1, Viola Alesi2, Sara Loddo2, Antonio Novelli2, Giulia Tozzi1, Enrico Bertini1, Vincenzo Leuzzi3, Francesco Brancati4.   

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Year:  2016        PMID： 27639779     DOI： 10.1016/j.braindev.2016.08.010

Source DB:  PubMed          Journal:  Brain Dev        ISSN： 0387-7604            Impact factor:   1.961


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  2 in total

1.  Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.

Authors:  Mireia Boluda-Navarro; Mariam Ibáñez; Alessandro Liquori; Clara Franco-Jarava; Mónica Martínez-Gallo; Héctor Rodríguez-Vega; Jaijo Teresa; Carmen Carreras; Esperanza Such; Ángel Zúñiga; Roger Colobran; José Vicente Cervera
Journal:  Front Immunol       Date:  2021-03-31       Impact factor: 7.561

2.  Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1.

Authors:  R Villafuerte-De la Cruz; O F Chacon-Camacho; A C Rodriguez-Martinez; N Xilotl-De Jesus; R Arce-Gonzalez; C Rodriguez-De la Torre; J E Valdez-Garcia; A Rojas-Martinez; J C Zenteno
Journal:  Front Genet       Date:  2022-08-16       Impact factor: 4.772
  2 in total

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