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