Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA

@article{Skordis2001CharacterisationON,
  title={Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA},
  author={Leigh A Skordis and Matthew Dunckley and Lydia Burglen and Louise Leonard Campbell and Kevin Talbot and Shobna Patel and Judith Melki and Kay Davies and Victor Dubowitz and Francesco Muntoni},
  journal={Human Genetics},
  year={2001},
  volume={108},
  pages={356-357}
}
We report two novel mutations in three cases of spinal muscular atrophy (SMA), including two distant cousins who followed an unexpectedly severe course. Diagnosis was confirmed by reduced SMN protein and full-length SMN mRNA levels. Sequencing of the non-deleted SMN1 gene revealed a single G insertion at the end of exon 1 in the two cousins and a novel G275S exon 6 missense mutation in the milder case. 

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Israel journal of medical sciences • 1977
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