Literature DB >> 23401890

Mutations in the phospholipid remodeling gene SERAC1 cause MEGDEL syndrome.

Athanasia Alexoudi, Susanne A Schneider.   

Abstract

Entities:  

Year:  2012        PMID： 23401890     DOI： 10.1002/mds.25228

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  1 in total

1.  SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).

Authors:  Roeltje R Maas; Adela Della Marina; Arjan P M de Brouwer; Ron A Wevers; Richard J Rodenburg; Saskia B Wortmann
Journal:  JIMD Rep       Date:  2015-09-27
  1 in total

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