Pseudodominant inheritance with the G86R mutation in the ARS gene in Mal de Meleda
2006; Wiley; Volume: 45; Issue: 12 Linguagem: Inglês
10.1111/j.1365-4632.2006.03106.x
ISSN1365-4632
AutoresSheau‐Chiou Chao, Ching‐Yuang Huang, Feng‐Jei Lai, Mei‐Hui Yang, Sheau‐Chiou Chao,
Tópico(s)Autoimmune Bullous Skin Diseases
ResumoInternational Journal of DermatologyVolume 45, Issue 12 p. 1456-1458 Pseudodominant inheritance with the G86R mutation in the ARS gene in Mal de Meleda Sheau-Chiou Chao MD, Sheau-Chiou Chao MDSearch for more papers by this authorChing-Yuang Huang MD, Ching-Yuang Huang MDSearch for more papers by this authorFeng-Jei Lai MD, PhD, Feng-Jei Lai MD, PhDSearch for more papers by this authorMei-Hui Yang MS, Mei-Hui Yang MSSearch for more papers by this authorSheau-Chiou Chao MD, Sheau-Chiou Chao MDSearch for more papers by this author Sheau-Chiou Chao MD, Sheau-Chiou Chao MDSearch for more papers by this authorChing-Yuang Huang MD, Ching-Yuang Huang MDSearch for more papers by this authorFeng-Jei Lai MD, PhD, Feng-Jei Lai MD, PhDSearch for more papers by this authorMei-Hui Yang MS, Mei-Hui Yang MSSearch for more papers by this authorSheau-Chiou Chao MD, Sheau-Chiou Chao MDSearch for more papers by this author First published: 06 December 2006 https://doi.org/10.1111/j.1365-4632.2006.03106.xCitations: 6Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Hovorka O, Ehlers E. Mal de Meleda. Arch Derm Syph (Berlin) 1897; 40: 251–256. 2 Reed ML, Stanley J, Stengel F, et al. Mal de Meleda treated with 13-cis retinoic acid. Arch Dermatol 1979; 115: 605–608. 3 Jee SH, Lee YY, Wu YC, et al. Report of a family with Mal de Meleda in Taiwan: a clinical, histopathological and immunological study. Dermatologica 1985; 171: 30–37. 4 Lestringant GG, Frossard PM, Adeghate E, et al. Mal de Meleda: a report of four cases from the United Arab Emirates. Pediatr Dermatol 1997; 14: 186–191. 5 Eckl KM, Stevens HP, Lestringant GG, et al. Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. Hum Genet 2003; 112: 50–56. 6 Fischer J, Bouadjar B, Heilig R, et al. Genetic linkage of Meleda disease to chromosome 8qter. Eur J Hum Genet 1998; 6: 542–547. 7 Fischer J, Bouadjar B, Heilig R, et al. Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet 2001; 10: 875–880. 8 Ward KM, Yerebakan O, Yilmaz E, et al. Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with Mal de Meleda. J Invest Dermatol 2003; 120: 96–98. 9 Marrakchi S, Audebert S, Bouadjar B, et al. Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. J Invest Dermatol 2003; 120: 351–355. 10 Mastrangeli R, Donini S, Kelton CA, et al. ARS component B: structural characterization, tissue expression and regulation of the gene and protein (SLURP-1) associated with Mal de Meleda. Eur J Dermatol 2003; 13: 560–570. Citing Literature Volume45, Issue12December 2006Pages 1456-1458 ReferencesRelatedInformation
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