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A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.

Gene - 25 Jul 2013

Liu Yan-Hui, Shang Xuan, Li Zhe-Tao, Wu Ya-Min, Li Li-Fen, Xu Xiang-Min

Abstract excerpt

Pretibial epidermolysis bullosa (PEB) is an extremely rare subtype of dominant dystrophic epidermolysis bullosa (DDEB) caused by mutation of the COL7A1 gene. More than 730 mutations have been identified in patients with DDEB, but only five mutations have been found to be related to PEB. In this study, a novel heterozygous nucleotide G>T transition at position 6101 in exon 73 of COL7A1 was detected, which resulted...

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PMID: 23624125
DOI: 10.1016/j.gene.2013.03.143

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