Article
Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: the splice site mutation c.6216+5G > T in the COL7A1 gene results in aberrant and normal splicings.
Journal of dermatological science - 1 May 2008
Hamada Takahiro, Fukuda Shunpei, Ishii Norito, Sakaguchi Sachiko, Ishikawa Takako, Abe Toshifumi, Yasumoto Shinichiro, Hashimoto Takashi, Nakano Hajime, Sawamura Daisuke
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