Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.

@article{Doll1992MolecularDF,
  title={Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.},
  author={Rhonda Doll and Marvin R Natowicz and Raphael Schiffmann and Felix FitzRoy Ian Smith},
  journal={American journal of human genetics},
  year={1992},
  volume={51 1},
  pages={161-9}
}
Pelizaeus-Merzbacher disease (PMD) is a clinically heterogeneous, slowly progressive leukodystrophy. The recent detection of mutations in the myelin proteolipid protein (PLP) gene in several PMD patients offers the opportunity both to design DNA-based tests that would be useful in diagnosing a proportion of PMD cases and, in particular, to evaluate the diagnostic utility of single-strand conformation polymorphism (SSCP) analysis for this disease. A combination of SSCP analysis and direct… CONTINUE READING
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