POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
- Published in:
- BMC Neurology, 2010, v. 10, p. 29, doi. 10.1186/1471-2377-10-29
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- Publication type:
- Article
Works by Pajunen, Leila
Results: 3
1
2
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 522, doi. 10.1038/ejhg.2013.190
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- Publication type:
- Article
3
Monoclonal Antibodies to Collagen Hydroxylases and Their Use for the Localization of the Genes for These Enzymes on Human Chromosomes.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 460, n. 1, p. 486, doi. 10.1111/j.1749-6632.1985.tb51217.x
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- Publication type:
- Article