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Your search keyword '"Meng, Y."' showing total 1 results
Start Over Author "Meng, Y." Journal british journal of dermatology Publisher oxford university press / usa
1 results on '"Meng, Y."'

1. Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia.

Author

Zhao, J., Hua, R., Zhao, X., Meng, Y., Ao, Y., Liu, Q., Shang, D., Sun, M., Lo, W. H-Y., and Zhang, X.

Subjects
RESEARCH, GENES, ECTODERMAL dysplasia, INTRONS, PHENOTYPES, CARCINOGENESIS
Abstract

The article presents a study on three novel mutations of the ectodysplasin A (EDA) gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia (XLHED). The researchers believe that a pathogenic mutation located in the introns or other regulatory regions might be responsible for the disease phenotype. Furthermore, the study revealed evidence for an unequal homologous recombination between two LINE-1 elements as the molecular mechanism in the pathogenesis of XLHED.

Published
2008
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