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Identification of two novel mutations in keratin 13 as the cause of white sponge naevus

✍ Scribed by EL Rugg; GJ Magee; NJ Wilson; F. Brandrup; J. Hamburger; EB Lane


Book ID
111271730
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
57 KB
Volume
5
Category
Article
ISSN
1354-523X

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Screening of SLC25A13 mutations in early
✍ Naoki Yamaguchi; Keiko Kobayashi; Tomotsugu Yasuda; Ikumi Nishi; Mikio Iijima; M πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 539 KB

We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adultonset type II citrullinemia (CTLN2) and found seven mutations in the SLC25A13 gene of CTLN2 patients. Most recently, the SLC25A13 mutations have been detected in neonatal/infantile patients with a type of neon