MEGDEL

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 B Wortmann, Thorsten Marquardt, Tobias B Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik

Journal of Medical Genetics Jan 2018, 55 (1) 39-47; DOI: 10.1136/jmedgenet-2017-104622

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