Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease - Concepedia

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Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

DOI Full Paper Access

285

Citations

15

References

2011

Year

Michael N. Weedon, Robert Hastings, Richard Caswell, Weijia Xie, Konrad Paszkiewicz, Thalia Antoniadi, Maggie Williams, Cath King, Lynn Greenhalgh, Ruth Newbury‐Ecob,

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderExome SequencingGeneticsPathologyMolecular GeneticsDisease Gene IdentificationGenomicsLarge PedigreeMedicineDync1h1 MutationVariant InterpretationClinical Genetics

References

	Year	Citations

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