Associated Papers
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
Xu W et al.
International Journal of Molecular Medicine, 2014
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
Griffiths S et al.
Familial Cancer, 2007
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
Madsen PP et al.
Human Genetics, 2006
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
Ars E et al.
Journal of Medical Genetics, 2003
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