A unique point mutation in the PMP22 gene is associated with Deafness, Charcot‐Marie-Tooth and Anticipation

V. E. Kimonis, M. J. Kovach, J. P. Lin, Simeon Boyd, K. Campbell, L. Mazzeo, K. Herman, W. Frank, B. Llewellyn, E. W. Jabs, D. Gelber

Research output: Contribution to journalArticle

Original languageEnglish (US)
Pages (from-to)44
Number of pages1
JournalGenetics in Medicine
Volume1
Issue number2
StatePublished - 1999
Externally publishedYes

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Deafness
Point Mutation
Tooth
Genes

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Kimonis, V. E., Kovach, M. J., Lin, J. P., Boyd, S., Campbell, K., Mazzeo, L., ... Gelber, D. (1999). A unique point mutation in the PMP22 gene is associated with Deafness, Charcot‐Marie-Tooth and Anticipation. Genetics in Medicine, 1(2), 44.

A unique point mutation in the PMP22 gene is associated with Deafness, Charcot‐Marie-Tooth and Anticipation. / Kimonis, V. E.; Kovach, M. J.; Lin, J. P.; Boyd, Simeon; Campbell, K.; Mazzeo, L.; Herman, K.; Frank, W.; Llewellyn, B.; Jabs, E. W.; Gelber, D.

In: Genetics in Medicine, Vol. 1, No. 2, 1999, p. 44.

Research output: Contribution to journalArticle

Kimonis, VE, Kovach, MJ, Lin, JP, Boyd, S, Campbell, K, Mazzeo, L, Herman, K, Frank, W, Llewellyn, B, Jabs, EW & Gelber, D 1999, 'A unique point mutation in the PMP22 gene is associated with Deafness, Charcot‐Marie-Tooth and Anticipation', Genetics in Medicine, vol. 1, no. 2, pp. 44.
Kimonis, V. E. ; Kovach, M. J. ; Lin, J. P. ; Boyd, Simeon ; Campbell, K. ; Mazzeo, L. ; Herman, K. ; Frank, W. ; Llewellyn, B. ; Jabs, E. W. ; Gelber, D. / A unique point mutation in the PMP22 gene is associated with Deafness, Charcot‐Marie-Tooth and Anticipation. In: Genetics in Medicine. 1999 ; Vol. 1, No. 2. pp. 44.
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