𝔖 Bobbio Scriptorium
✦   LIBER   ✦

P.6.10 Phenotypic variability in a French family presenting with seipinopathy

✍ Scribed by Magot, A.; Ollivier, Y.; Latour, P.; Perrier, J.; Mercier, S.; Maisonobe, T.; Pereon, Y.


Book ID
122862466
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
46 KB
Volume
23
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Aceruloplasminemia: A novel mutation in
✍ Alfonso Fasano; Cesare Colosimo; Hiroaki Miyajima; Pietro Attilio Tonali; Thomas πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 189 KB

## Abstract Hereditary aceruloplasminemia (HA) is a rare inherited disease characterized by anemia, iron overload, diabetes, and neurodegeneration. HA is caused by the homozygous mutation of the ceruloplasmin (CP) gene. We report two siblings with markedly different phenotypes carrying a novel muta