C
cfsucks
Guest
Could only find a thread 6 years ago on this mutation- and very little online.
All I found is this site...
http://www.genet.sickkids.on.ca/MutationDetailPage.external?sp=588
All I found is this site...
http://www.genet.sickkids.on.ca/MutationDetailPage.external?sp=588
Found once in an individual who is a compound heterozygote for the 1717-1G->A. This mutation results in the increase of a string of A's into five which is expected to lead to the premature termination of product due to the formation of a TAA stop codon four codons downstream at codon position 381. Detection by SSC/HA. This mutation was shown to have been inherited from the parent without 1717-1G->A. This mutation can be detected by SSCA and HA.
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Would this be considered a nonsense mutation?