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Başlık: A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica
Yazarlar: Giraud, Mathilde
Schmitt, Sébastien
B́ezieau, Stéphane
Küry, Sébastien
Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.
Kılıç, Sara Şebnem
AAH-1658-2021
34975059200
Anahtar kelimeler: Acrodermatitis enteropathica
Slc39a4
Dermatitis
Zinc deficiency
Dermatology
Yayın Tarihi: Ağu-2007
Yayıncı: Wiley
Atıf: Kılıç, S. Ş. vd. (2007). "A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica". British Journal of Dermatology, 157(2), 386-387.
Özet: Acrodermatitis enteropathica (AE, OMIM 201100) is an autosomal recessive disease characterized by skin findings caused by defective intestinal zinc absorption. The skin lesions include erythema, erosions and small blisters in the perioral and perianal regions, hands and feet, which develop soon after weaning. The AE gene has recently been identified as SLC39A4. This gene, located on chromosomal region 8q24.3, encodes a novel zinc transporter protein belonging to the ZIP (zinc/iron‐regulated transporter‐like protein) family. It was found mutated in several distinct families with AE coming from Europe, North Africa, Japan and the Middle East. We report a 23‐month‐old boy with AE who exhibits a new mutation in exon 11 of the SLC39A4 gene. This is the first report on the screening of SLC39A4 mutations from Turkey.
URI: https://doi.org/10.1111/j.1365-2133.2007.08000.x
https://academic.oup.com/bjd/article/157/2/386/6640893
http://hdl.handle.net/11452/31221
ISSN: 0007-0963
1365-2133
Koleksiyonlarda Görünür:PubMed
Scopus
Web of Science

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