𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of the mutation responsible for an enzyme polymorphism

✍ Scribed by John P. Baker


Book ID
104784050
Publisher
Springer
Year
1978
Tongue
English
Weight
284 KB
Volume
16
Category
Article
ISSN
0006-2928

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An Ξ±-spectrin mutation responsible for h
✍ N. Dalla Venezia; R. Wilmotte; L. MorlΓ©; A. Forissier; N. Parquet; M. Garbarz; T πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 501 KB

The alpha 207 Leu-->Pro mutation in spectrin has recently been identified as a cause of alpha I/50-46a hereditary elliptocytosis (HE) or pyropoikilocytosis among Black people. We have found this mutation in a Moroccan family in both the heterozygous and homozygous states. The mutated alpha-spectrin