Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

Neurology: Genetics

Volumn 2, Issue 5, 2016, Pages

  Steinrücke, Sofia ^a   Lohmann, Katja ^a   Domingo, Aloysius ^a   Rolfs, Arndt ^b,c   Bäumer, Tobias ^a   Spiegler, Juliane ^d   Hartmann, Corinna ^a   Münchau, Alexander ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF ROSTOCK   (Germany)

^c CENTOGENE AG   (Germany)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BENSERAZIDE PLUS LEVODOPA; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 13;

ADOLESCENT; CASE REPORT; CLINICAL FEATURE; DRUG EFFECT; EXOME; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENERALIZED DYSTONIA; GENETIC CODE; GENETIC VARIATION; GNB1 GENE; HETEROZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUTATOR GENE; PEDIGREE ANALYSIS; SHORT SURVEY;

EID: 85014893990     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000106     Document Type: Short Survey

References (6)

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