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)
Number of pages1
JournalPediatric Nephrology
Volume8
Issue number3
DOIs
StatePublished - Jun 1 1994

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology

Cite this

Roa, B. B., Garcia, C. A., Suter, U., Kulpa, D. A., Wise, C. A., Müller, J., Welcher, A. A., Snipes, G. J., Shooter, E. M., Patel, P. I., & Lupski, J. R. (1994). Charcot-Marie-tooth disease type 1A Association with a spontaneous point mutation in the PMP22 gene. Pediatric Nephrology, 8(3). https://doi.org/10.1007/BF00866335