Molecular pathology of neurofibromatosis type 1 (NF1)
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder caused by mutations in the NF1 gene. Mutation detection in NF1 has been a major challenge due to the large size of the gene and lack of mutational hotspots. This study reports mutation screening of 91 subjects fulfilling...
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University College London (University of London)
2005
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.416136 |