A novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

Neurobiology of Aging

Volumn 33, Issue 1, 2012, Pages 208.e1-208.e5

  Tümer, Zeynep ^a,b   Bertelsen, Birgitte ^a   Gredal, Ole ^c   Magyari, Melinda ^d   Nielsen, Karen Cecilie ^e   LuCamp, ^f   Grønskov, Karen ^a   Brøndum Nielsen, Karen ^a,b  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c The Rehabilitation Center for Neuromuscular Diseases   (Denmark)

^d ALS Team   (Denmark)

^e University of Esbjerg   (Denmark)

^f H LUNDBECK A S   (Denmark)

Author keywords

ALS; Amyotrophic lateral sclerosis; Glaucoma; Optineurin; OPTN

Indexed keywords

BINDING PROTEIN; CYSTEINE; GLUTAMINE; OPTINEURIN; THREONINE; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONTROLLED STUDY; DANISH; DEGENERATIVE DISEASE; ETHNIC GROUP; EXON; FAMILY STUDY; FATHER; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; OPTN GENE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 81355147499     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2011.07.001     Document Type: Article

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