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Office
320 S Wakara Way
Salt Lake City, UT 84108Phone+1 801-584-3600
Summary
- Dr. Benjamin Roa, MD is a board certified medical geneticist in Salt Lake City, Utah.
Certifications & Licensure
- American Board of Medical Genetics and Genomics Clinical Molecular Genetics and Genomics
Publications & Presentations
PubMed
- 263 citationsTwo autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17Phillip F. Chance, Nacer Abbas, M. William Lensch, Liu Pentao, Benjamin B. Roa
Human Molecular Genetics. 1994-02-01 - 29 citationsAbsence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.Laura E. Warner, Benjamin B. Roa, James R. Lupski
Human Mutation. 1996-01-01 - 74 citationsInterruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?Tohru Matsuura, Ping Fang, Christopher E. Pearson, Parul Jayakar, Tetsuo Ashizawa
American Journal of Human Genetics. 2006-01-01
