Literature DB >> 16278897

Report of a third family with Oliver syndrome.

Carmelo Damiano Salpietro, Silvana Briuglia, Graziella Bertuccio, Luciana Rigoli, Rita Mingarelli, Bruno Dallapiccola.   

Abstract

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Year:  2005        PMID： 16278897     DOI： 10.1002/ajmg.a.30999

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  1 in total

1.  A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

Authors:  Vincenzo Salpietro; Stephanie Efthymiou; Andreea Manole; Bhawana Maurya; Sarah Wiethoff; Balasubramaniem Ashokkumar; Maria Concetta Cutrupi; Valeria Dipasquale; Sara Manti; Juan A Botia; Mina Ryten; Jana Vandrovcova; Oscar D Bello; Conceicao Bettencourt; Kshitij Mankad; Ashim Mukherjee; Mousumi Mutsuddi; Henry Houlden
Journal:  Hum Mutat       Date:  2017-11-27       Impact factor: 4.878
  1 in total

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