Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

Erstveröffentlichung
2017
Authors
Lohmann, Katja
Redin, Claire
Toennies, Holger
Bressman, Susan B.
Subero, Jose Ignacio Martin
et al.
Wissenschaftlicher Artikel


Published in
JAMA Neurology ; 74 (2017), 7. - S. 806-812. - ISSN 2168-6149. - eISSN 2168-6157
Link to publication
https://dx.doi.org/10.1001/jamaneurol.2017.0666
Institutions
UKU. Institut für Humangenetik
Subject headings
[Free subject headings]: structural variation | deletions | gene | inversions | mutations | diagnosis | alignment | genome | bmp4 | gch1
[DDC subject group]: DDC 610 / Medicine & health
Metadata
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