๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Identification of the First Variegate Porphyria Mutation in an Indigenous Black South African and Further Evidence for Heterogeneity in Variegate Porphyria

โœ Scribed by A.V. Corrigall; R.J. Hift; L.M. Davids; V. Hancock; D. Meissner; R.E. Kirsch; P.N. Meissner


Book ID
115639839
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
124 KB
Volume
73
Category
Article
ISSN
1096-7192

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Identification and characterisation of a
โœ Anne V. Corrigall; Richard J. Hift; Valerie Hancock; Doreen Meissner; Lester Dav ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 245 KB ๐Ÿ‘ 2 views

Variegate porphyria is an autosomal dominant disorder of haem metabolism resulting from a partial decrease in protoporphyrinogen oxidase activity. Variegate porphyria is highly prevalent in South Africa, the result of a founder effect now confirmed genetically as a single point mutation (R59W) which