A New Mutation In The Csb Gene In A Chinese Patient With Mild Cockayne Syndrome
CLINICAL CASE REPORTS(2014)
摘要
Cockayne syndrome (CS) is a rare autosomal recessive genetic disease characterized by growth failure and progressive neurological degeneration. Here we report a mild form of CS patient who was homozygous for the C526T transition resulting in a new nonsense mutation, which converts Arg176 to a stop codon.
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关键词
Cockayne syndrome, CSB gene, mutation
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