Genetic and phenotypic characterisation of a novel Efl1 mouse mutant of Shwachman Diamond syndrome
A novel mouse mutant was identified through an ENU (N-ethyl-N-nitrosourea) mutagenesis screen due to an abnormal gait. Next generation sequencing revealed the causative mutation to be in the gene Efl1 (K983R). The protein EFL1 is involved in ribosome maturation, a cellular process that is defective...
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University of Oxford
2016
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| Online Access: | https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.740800 |