An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP
2006
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating neuropathy. Point mutations in the PMP22 gene are a rare cause of HNPP. A novel PMP22 splice site mutation (c.179+1 G→C) is reported in an HNPP family. By reverse transcriptase‐polymerase chain reaction experiments, this mutation was shown to cause the synthesis of an abnormal mRNA in which a premature stop codon probably produces a truncated non‐functional protein.
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