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Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.
Steinrücke, Sofia; Lohmann, Katja; Domingo, Aloysius; Rolfs, Arndt; Bäumer, Tobias; Spiegler, Juliane; Hartmann, Corinna; Münchau, Alexander.
Affiliation
  • Steinrücke S; Institute of Neurogenetics (S.S., K.L., A.D., T.B., C.H., A.M.), University of Lübeck; Albrecht-Kossel-Institute for Neuroregeneration (A.R.), University of Rostock; Centogene AG (A.R.), Rostock; and Department of Pediatrics (J.S.), University Medical Center Schleswig-Holstein, Campus Lübeck, German
  • Lohmann K; Institute of Neurogenetics (S.S., K.L., A.D., T.B., C.H., A.M.), University of Lübeck; Albrecht-Kossel-Institute for Neuroregeneration (A.R.), University of Rostock; Centogene AG (A.R.), Rostock; and Department of Pediatrics (J.S.), University Medical Center Schleswig-Holstein, Campus Lübeck, German
  • Domingo A; Institute of Neurogenetics (S.S., K.L., A.D., T.B., C.H., A.M.), University of Lübeck; Albrecht-Kossel-Institute for Neuroregeneration (A.R.), University of Rostock; Centogene AG (A.R.), Rostock; and Department of Pediatrics (J.S.), University Medical Center Schleswig-Holstein, Campus Lübeck, German
  • Rolfs A; Institute of Neurogenetics (S.S., K.L., A.D., T.B., C.H., A.M.), University of Lübeck; Albrecht-Kossel-Institute for Neuroregeneration (A.R.), University of Rostock; Centogene AG (A.R.), Rostock; and Department of Pediatrics (J.S.), University Medical Center Schleswig-Holstein, Campus Lübeck, German
  • Bäumer T; Institute of Neurogenetics (S.S., K.L., A.D., T.B., C.H., A.M.), University of Lübeck; Albrecht-Kossel-Institute for Neuroregeneration (A.R.), University of Rostock; Centogene AG (A.R.), Rostock; and Department of Pediatrics (J.S.), University Medical Center Schleswig-Holstein, Campus Lübeck, German
  • Spiegler J; Institute of Neurogenetics (S.S., K.L., A.D., T.B., C.H., A.M.), University of Lübeck; Albrecht-Kossel-Institute for Neuroregeneration (A.R.), University of Rostock; Centogene AG (A.R.), Rostock; and Department of Pediatrics (J.S.), University Medical Center Schleswig-Holstein, Campus Lübeck, German
  • Hartmann C; Institute of Neurogenetics (S.S., K.L., A.D., T.B., C.H., A.M.), University of Lübeck; Albrecht-Kossel-Institute for Neuroregeneration (A.R.), University of Rostock; Centogene AG (A.R.), Rostock; and Department of Pediatrics (J.S.), University Medical Center Schleswig-Holstein, Campus Lübeck, German
  • Münchau A; Institute of Neurogenetics (S.S., K.L., A.D., T.B., C.H., A.M.), University of Lübeck; Albrecht-Kossel-Institute for Neuroregeneration (A.R.), University of Rostock; Centogene AG (A.R.), Rostock; and Department of Pediatrics (J.S.), University Medical Center Schleswig-Holstein, Campus Lübeck, German
Neurol Genet ; 2(5): e106, 2016 Oct.
Article in En | MEDLINE | ID: mdl-27668284

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Neurol Genet Year: 2016 Document type: Article Country of publication: Estados Unidos

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Neurol Genet Year: 2016 Document type: Article Country of publication: Estados Unidos