Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.

Abstract excerpt

Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder. Mutation in the SIL1 gene accounts for the majority of MSS cases. However, some individuals with typical MSS without SIL1 mutations have been reported. In this study, we identified two novel mutations in a Japanese pedigree with MSS, one of which was an intragenic deletion not detected using the PCR-direct sequencing protocol. This family...

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