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Painful sensory neuropathy associated with hereditary spherocytosis

✍ Scribed by Saša A. Živković; David Lacomis


Publisher
Springer
Year
2007
Tongue
English
Weight
88 KB
Volume
86
Category
Article
ISSN
0939-5555

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Two distinct truncated variants of ankyr
✍ Hayette, S.; Carré, G.; Bozon, M.; Alloisio, N.; Maillet, P.; Wilmotte, R.; Pasc 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 262 KB

We present two distinct truncated variants of ankyrin associated with mild to moderate hereditary spherocytosis. Ankyrin Saint-Etienne 1 was manifested by an additional band located between bands 2.1 and 2.2. It was associated with a nonsense mutation in exon 39: TGG→TGA; W1721X. Ankyrin Saint-Etien