GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneLMNB1
Other names-
Gene namelamin B1
Gene inheritanceFALS genes
Discovery methodNGS
Category 
Chromosome5q23.2
GRCh37 (hg19)Chr5:126776623-126837020(+)
GRCh38 (hg38)Chr5:126776623-126837020(+)
BackgroundTo identify mutations in ALS kindreds.
ResultApplied exome sequencing to a family of European ancestry in which several individuals had been diagnosed with ALS and dementia and found an LMNB1 mutation.
Mutations1
Patients0

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (1)

First_AuthorYearTitlePaper
Johnson2014Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosisFull_Paper