This is a preview of subscription content, access via your institution
Relevant articles
Open Access articles citing this article.
-
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
Genome Medicine Open Access 09 December 2019
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Auborg, P. Nature Genet. 5, 105–106 (1993).
Pratt, V.M. et al. Am. J. med. Genet. 38, 136–139 (1991).
Hudson, L.D., Puckett, C., Berndt, J., Chan, J. & Gencic, S. Proc. natn. Acad. Sci. U.S.A. 86, 8128–8131 (1989).
Pham-Dinh, D. et al. Proc. natn. Acad. Sci. U.S.A. 88, 7562–7566 (1991).
Timmerman, V. et al. Nature Genet. 1, 171–175 (1992).
Valentijn, L.J. et al. Nature Genet. 1, 166–170 (1992).
Matsunami, N. et al. Nature Genet. 1, 176–179 (1992).
Cremers, F.P.M. et al. Hum. Genet. 77, 23–27 (1987).
Cremers, F.P.M. et al. Am. J. hum. Genet. 43, 452–461 (1988).
Valentijn, L.J. et al. Nature Genet. 2, 288–291 (1992).
Rao, B. et al New Engl. J. Med. 329, 96–101 (1993).
Lupski, J.R. et al. Nature Genet. 1, 29–33 (1992).
Chance, P.F. et al. Neurology 42, 2295–2299 (1992).
Upadhyaya, M. et al. Hum. Genet. 91, 392–394 (1993).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ellis, D., Malcolm, S. Proteolipid protein gene dosage effect in Pelizaeus–Merzbacher disease. Nat Genet 6, 333–334 (1994). https://doi.org/10.1038/ng0494-333
Issue Date:
DOI: https://doi.org/10.1038/ng0494-333
This article is cited by
-
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
Genome Medicine (2019)
-
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination
Neurogenetics (2007)
-
Hereditary pancreatitis caused by triplication of the trypsinogen locus
Nature Genetics (2006)
-
Diagnosis of Pelizaeus–Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR
Neurogenetics (2005)
-
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
Neurogenetics (2005)