Article
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
Pediatric neurology - 1 Jun 2013
Ko Jung Min, Sohn Young Bae, Jeong Seon Yong, Kim Hyon-Ju, Messiaen Ludwine M
Abstract excerpt
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in humans. NF1 is caused by mutations of the NF1 gene. Mutation detection is complex owing to the large size of the NF1 gene, the presence of pseudogenes, and the great variety of mutations. Also, few probable genotype-phenotype correlations have been found in NF1. In this study 78 Korean patients from 60 families were screened...
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