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A de novo nonsense mutation in exon 28 of the neurofibromatosis type l (NF1) gene

✍ Scribed by Ming Hong Shen; Meena Upadhyaya


Publisher
Springer
Year
1993
Tongue
English
Weight
517 KB
Volume
92
Category
Article
ISSN
0340-6717

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The gene responsible for von Recklinghausen neurofibromatosis (NF1) has recently been identified, and several point mutations and deletions have been described. The availability of intron-exon boundaries of several exons of the NF1 gene facilitates the search for mutations in affected patients. We h