Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in the PMP22 gene

Benjamin B. Roa, Carlos A. Garcia, Uelli Suter, Deanna A. Kulpa, Carol A. Wise, Jane Müller, Andrew A. Welcher, G. Jackson Snipes, Eric M. Shooter, Pragna I. Patel, James R. Lupski

Research output: Contribution to journalArticle

Original languageEnglish (US)
Pages (from-to)284
Number of pages1
JournalPediatric Nephrology
Volume8
Issue number3
DOIs
StatePublished - Jun 1994

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Charcot-Marie-Tooth Disease
Point Mutation
Genes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology

Cite this

Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in the PMP22 gene. / Roa, Benjamin B.; Garcia, Carlos A.; Suter, Uelli; Kulpa, Deanna A.; Wise, Carol A.; Müller, Jane; Welcher, Andrew A.; Snipes, G. Jackson; Shooter, Eric M.; Patel, Pragna I.; Lupski, James R.

In: Pediatric Nephrology, Vol. 8, No. 3, 06.1994, p. 284.

Research output: Contribution to journalArticle

Roa, BB, Garcia, CA, Suter, U, Kulpa, DA, Wise, CA, Müller, J, Welcher, AA, Snipes, GJ, Shooter, EM, Patel, PI & Lupski, JR 1994, 'Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in the PMP22 gene', Pediatric Nephrology, vol. 8, no. 3, pp. 284. https://doi.org/10.1007/BF00866335
Roa, Benjamin B. ; Garcia, Carlos A. ; Suter, Uelli ; Kulpa, Deanna A. ; Wise, Carol A. ; Müller, Jane ; Welcher, Andrew A. ; Snipes, G. Jackson ; Shooter, Eric M. ; Patel, Pragna I. ; Lupski, James R. / Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in the PMP22 gene. In: Pediatric Nephrology. 1994 ; Vol. 8, No. 3. pp. 284.
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