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Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features

✍ Scribed by Ronald L. Sham; Pradyumna D. Phatak; Carol West; Pauline Lee; Caroline Andrews; Ernest Beutler


Book ID
116304014
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
142 KB
Volume
34
Category
Article
ISSN
1079-9796

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πŸ“œ SIMILAR VOLUMES


Novel SPG6 mutation p.A100T in a Japanes
✍ Satoshi Kaneko; Toshitaka Kawarai; Edwin Yip; Shabnam Salehi-Rad; Christine Sato πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 98 KB

## Abstract We describe a Japanese family in which inheritance of a novel mutation p.A100T in __SPG6__ resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of __SPG6__.