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An example is the universal ribosomal protein L38, whose mutations cause unique patterning defects in mouse embryos, including homeotic transformations of the axial skeleton, whereas mutants of several other ribosomal proteins show no such defects [29,31].
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At least 80 mutations cause transthyretin diseases, Dr. Kelly said.
We suggest that the identified PDE3A mutations cause the syndrome.
Some mutations cause symptoms that present only during pregnancy.
Mutations cause male flies to be attracted to males53.
Inactivating mutations cause juvenile hemochromatosis, a severe iron overload disorder.
How these mutations cause enchondromas is unclear.
In fact, most lethal mutations cause only very rare diseases.
Conversely, human GLIS3 mutations cause neonatal diabetes.
Furthermore, mutations causing reduced DNaseI in lupus patients did not correlate with unique clinical symptoms [ 53].
Richards, R.I. & Sutherland, G.R. Dynamic mutations: A new class of mutations causing human disease.
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