The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy

Author:

DiVincenzo Christina1,Elzinga Christopher D.1,Medeiros Adam C.1,Karbassi Izabela1,Jones Jeremiah R.1,Evans Matthew C.1,Braastad Corey D.1,Bishop Crystal M.1,Jaremko Malgorzata1,Wang Zhenyuan1,Liaquat Khalida1,Hoffman Carol A.1,York Michelle D.1,Batish Sat D.1,Lupski James R.2,Higgins Joseph J.1

Affiliation:

1. Quest Diagnostics Athena Diagnostics Marlborough Massachusetts

2. Departments of Molecular and Human Genetics and Pediatrics Baylor College of Medicine Houston Texas

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference26 articles.

1. Measurement of locus copy number by hybridisation with amplifiable probes

2. Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation

3. CDC.2007.Center for disease control office of public health genomics ACCE Project.

4. Charcot‐Marie‐Tooth disease and related peripheral neuropathies;Jonghe P.;J. Peripher. Nerv. Syst.,1997

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