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Novel and recurrent nonsense mutation of the SLC39A4 gene in Japanese patients with acrodermatitis enteropathica

✍ Scribed by H. Nakano; Y. Nakamura; T. Kawamura; N. Shibagaki; H. Matsue; T. Aizu; D. Rokunohe; E. Akasaka; K. Kimura; A. Nishizawa; N. Umegaki; Y. Mitsuhashi; S. Shimada; D. Sawamura

Book ID
108670570
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
313 KB
Volume
161
Category
Article
ISSN
0007-0963

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✍ Sébastien Schmitt; Sébastien Küry; Mathilde Giraud; Brigitte Dréno; Monia Kharfi 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 230 KB

Acrodermatitis enteropathica (AE) is a very rare inherited recessive disease caused by severe zinc deficiency. It typically occurs in early infancy and is characterized by periorificial and acral dermatitis, alopecia, and diarrhea. In 2002, both we and others identified the AE SLC39A4 gene located a