A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis

Volumn 13, Issue 5, 2012, Pages 465-470

  Solski, Jennifer A ^a   Yang, Shu ^a   Nicholson, Garth A ^a,b   Luquin, Natasha ^b   Williams, Kelly L ^a,b   Fernando, Ruvini ^a   Pamphlett, Roger ^b   Blair, Ian P ^a,b  

^a Department of Microbiology and Infectious Diseases   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Amyotrophic lateral sclerosis; Flail arm; Mutation; TARDBP; TDP 43

Indexed keywords

GENOMIC DNA; GLYCINE; PROTEIN; PROTEIN TARDBP; TAR DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BLOOD SAMPLING; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPLASM; FEMALE; FIBROBLAST; FLAIL ARM VARIANT; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOREACTIVITY; INDEL MUTATION; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FRONTOTEMPORAL LOBAR DEGENERATION; HUMANS; INDEL MUTATION; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE;

EID: 84865347668     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2012.662690     Document Type: Article

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