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Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA

✍ Scribed by C.A. Hübner; A. Senning; U. Orth; K. Zerres; H. Urbach; A. Gal; S. Rudnik-Schöneborn


Book ID
116786919
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
171 KB
Volume
132
Category
Article
ISSN
0306-4522

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A point mutation in the lariat branch po
✍ Enza Di Leo; Francesca Panico; Patrizia Tarugi; Carla Battisti; Antonio Federico 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 406 KB 👁 1 views

The lariat branch point sequence (BPS) is crucial for splicing pre-mRNA even if BPS mutations have infrequently been reported in human disease. In two siblings with Niemann-Pick type C (NPC) disease we identified two mutations of the NPC1 gene: i) one in exon 20 (c.2932C>T) (p.R978C) previously repo