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Deletion of the entireNF1 gene detected

Deletion of the entireNF1 gene detected by FISH: Four deletion patients associated with severe manifestations

✍ Wu, Bai-Lin ;Austin, Michele A. ;Schneider, Gretchen H. ;Boles, Richard G. ;Korf 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 646 KB

Genetic analysis of N F I has indicated a wide diversity of mutations, including chromosome rearrangements, deletions, insertions, duplications, and point mutations. Recently, five severely affected individuals have been found by Kayes et al. [1994] to have deletions encompassing the entire gene. Th