Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3

William Benko, K. S. Hruska, N. Nagan, O. Goker-Alpan, P. S. Hart, R. Schiffmann, E. Sidransky

Research output: Contribution to journalArticle

13 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)976-978
Number of pages3
JournalNeurology
Volume70
Issue number12
DOIs
StatePublished - Mar 1 2008
Externally publishedYes

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DNA Mutational Analysis
Myelin P0 Protein
Pupil Disorders
Uniparental Disomy
Glucosylceramidase
Charcot-Marie-Tooth Disease
Gaucher Disease
Inheritance Patterns
Hepatomegaly
Sensorineural Hearing Loss
Chromosome Mapping
Chromosomes, Human, Pair 1
Homozygote
Preschool Children
Genetic Predisposition to Disease
Genetic Markers
Microsatellite Repeats
Mutation

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Benko, W., Hruska, K. S., Nagan, N., Goker-Alpan, O., Hart, P. S., Schiffmann, R., & Sidransky, E. (2008). Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3. Neurology, 70(12), 976-978. https://doi.org/10.1212/01.wnl.0000305963.37449.32

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3. / Benko, William; Hruska, K. S.; Nagan, N.; Goker-Alpan, O.; Hart, P. S.; Schiffmann, R.; Sidransky, E.

In: Neurology, Vol. 70, No. 12, 01.03.2008, p. 976-978.

Research output: Contribution to journalArticle

Benko, W, Hruska, KS, Nagan, N, Goker-Alpan, O, Hart, PS, Schiffmann, R & Sidransky, E 2008, 'Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3', Neurology, vol. 70, no. 12, pp. 976-978. https://doi.org/10.1212/01.wnl.0000305963.37449.32
Benko, William ; Hruska, K. S. ; Nagan, N. ; Goker-Alpan, O. ; Hart, P. S. ; Schiffmann, R. ; Sidransky, E. / Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease type 3. In: Neurology. 2008 ; Vol. 70, No. 12. pp. 976-978.
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