Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

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