2002
DOI: 10.1067/mjd.2002.119673
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Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families

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Cited by 45 publications
(47 citation statements)
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“…All types of EB are seen in the UAE, but limited molecular studies have been carried out. In one consanguineous UAE family, non-Herltiz junctional EB was diagnosed and molecular study [Nakano et al, 2002] revealed heterozygosity for two mutations in the LAMB3 gene (Table 8). In addition, several families with pyloric atresia-junctional epidermolysis bullosa were seen in the UAE [Lestringant et al, 1992a] and molecular study [Allegra et al, 2003] in one of these families revealed missense mutation in ITGA6 gene resulting in rapid decay of alpha 6 integrin (Table 8).…”
Section: Genodermatosis Epidermolysis Bullosa (Eb)mentioning
confidence: 99%
“…All types of EB are seen in the UAE, but limited molecular studies have been carried out. In one consanguineous UAE family, non-Herltiz junctional EB was diagnosed and molecular study [Nakano et al, 2002] revealed heterozygosity for two mutations in the LAMB3 gene (Table 8). In addition, several families with pyloric atresia-junctional epidermolysis bullosa were seen in the UAE [Lestringant et al, 1992a] and molecular study [Allegra et al, 2003] in one of these families revealed missense mutation in ITGA6 gene resulting in rapid decay of alpha 6 integrin (Table 8).…”
Section: Genodermatosis Epidermolysis Bullosa (Eb)mentioning
confidence: 99%
“…Recent reports [16][17][18] have emphasized the importance of ethnic and geographic features in the study of other subtypes of EB and their relevance to the implementation of diagnostic strategies in specific regions of the world. The present study was aimed at assessing the possibility that EBS may present specific features in the Israeli population compared with the US and European populations.…”
Section: Commentmentioning
confidence: 99%
“…For instance, epidermolysis bullosa lethalis is relatively frequent in one village of Galilee due to mutations in LAMB3 (p.Q1083X) and AMA3 (c.2942delA) (Nakano et al 2002).…”
Section: Druzementioning
confidence: 99%