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Four frameshift mutations in neurofibromatosis type 1 caused by small insertions.

We have been using heteroduplex analysis to assay individual exons within the NF1 gene in an effort to identify disease causing constitutional mutations in neurofibromatosis type 1 patients. Here we report the identification and characterisation of four insertional NF1 frameshift mutations in an ana...

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Autori principali: Colman, S D, Abernathy, C R, Ho, V T, Wallace, M R
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1997
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050999/
https://ncbi.nlm.nih.gov/pubmed/9222967
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