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A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma

✍ Scribed by M. Méndez; P. Poblete-Gutiérrez; M.-J. Morán-Jiménez; M.-E. Rodriguez; M.-C. Garrido-Astray; A. Fontanellas; J. Frank; R.E. De Salamanca


Book ID
108670537
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
272 KB
Volume
160
Category
Article
ISSN
0007-0963

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A case of spontaneous mutation in the ke
✍ Vanessa A Morgan; Keith Byron; Lisa Paiman2; George A Varigos1 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB

## SUMMARY Epidermolytic palmoplantar keratoderma appears to be due to defects in keratin 9, the palmoplantar specific type 1 keratin. We report a case of spontaneous mutation, a C to T transition at codon 162, resulting in an arginine to tryptophan substitution in the 1 A region of the alpha helic