Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Bruels, Christine C

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. [electronic resource] - Molecular genetics & genomic medicine 03 2019 - e552 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

2324-9269

10.1002/mgg3.552 doi


Algorithms
Animals
Cells, Cultured
Computational Biology--methods
Drosophila melanogaster
Genetic Testing--methods
Humans
Male
Muscle, Skeletal--metabolism
Mutation
Myotonia Congenita--genetics
Phenotype
RNA Splice Sites--genetics
Sarcoplasmic Reticulum Calcium-Transporting ATPases--genetics
Exome Sequencing--methods
Young Adult