De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

Human Mutation

Volumn 31, Issue 5, 2010, Pages

  DeJesus Hernandez, Mariely ^a   Kocerha, Jannet ^a   Finch, Nicole ^a   Crook, Richard ^a   Baker, Matt ^a   Desaro, Pamela ^b   Johnston, Amelia ^b   Rutherford, Nicola ^a   Wojtas, Aleksandra ^a   Kennelly, Kathleen ^b   Wszolek, Zbigniew K ^b   Graff Radford, Neill ^b   Boylan, Kevin ^b   Rademakers, Rosa ^a  

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC   (United States)

Author keywords

Amyotrophic lateral sclerosis; De novo mutation; FUS splice site mutation; FUS truncating mutation; FUS TLS; Fused in sarcoma

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; GENOMIC DNA; TAR DNA BINDING PROTEIN;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL CELL; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FEMALE; FUSED IN SARCOMA GENE; GENE; GENE MUTATION; GENETIC CONSERVATION; HETEROZYGOTE; HUMAN; INDEL MUTATION; INFRAME MUTATION; MAJOR CLINICAL STUDY; MALE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN MOTIF; RNA SPLICING; SPLICING DEFECT; WILD TYPE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RNA-BINDING PROTEIN FUS; SUPEROXIDE DISMUTASE; YOUNG ADULT;

EID: 77951784437     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21241     Document Type: Article

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