𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV

✍ Scribed by AlBakheet, AlBandary; Qari, Aliya; Colak, Dilek; Rasheed, Anas; Kaya, Namik; Al-Sayed, Moeenaldeen

Book ID
121951679
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
375 KB
Volume
526
Category
Article
ISSN
0378-1119

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Aceruloplasminemia: A novel mutation in
Aceruloplasminemia: A novel mutation in a family with marked phenotypic variability
✍ 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