Article
RT-PCR splicing analysis of the NF1 open reading frame.
Human genetics - 1 May 2002
Thomson Susanne A M, Wallace Margaret R
Abstract excerpt
Neurofibromatosis 1 (NF1) is an autosomal dominant condition whose molecular diagnosis is challenging because of the large size of the gene and the vast number of unique NF1 gene mutations. Some splicing and nonsense mutations have been shown to cause exon skipping. Recently, temperature-induced abnormal splicing has been found in NF1 in ex-vivo tissues. This prompted us to investigate the entire NF1 transcript...
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