SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

Benjamin Roeben, Rebecca Schüle, Susanne Ruf, Benjamin Bender, Bader Alhaddad, Tanja Benkert, Thomas Meitinger, Selina Reich, Judith Böhringer, Claus-Dieter Langhans, Frédéric M Vaz, Saskia Wortmann (Co-author), Thorsten Marquardt, Tobias B Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik

Research output: Contribution to journalOriginal Article (Journal)peer-review

22 Citations (Web of Science)
Original languageEnglish
Pages (from-to)39-47
JournalJOURNAL OF MEDICAL GENETICS
Volume55
Issue number1
DOIs
Publication statusPublished - 2018

Keywords

  • HEREDITARY SPASTIC PARAPLEGIA
  • MOTOR-NEURON DEGENERATION
  • INBORN-ERRORS
  • BIOSYNTHESIS
  • DYSTONIA
  • METABOLISM
  • DEAFNESS
  • DISEASE
  • GENE

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