Harris, Elizabeth

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. [electronic resource] - Orphanet journal of rare diseases 09 2017 - 151 p. digital

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

1750-1172

10.1186/s13023-017-0699-9 doi


Exome--genetics
Female
Genetic Testing
High-Throughput Nucleotide Sequencing--methods
Humans
Male
Muscular Dystrophies, Limb-Girdle--genetics
Mutation--genetics
Phenotype
Sequence Analysis, DNA
United Kingdom