A Japanese-specific recurrent mutation and a novel splice site mutation in the LAMC2 gene identified in two Japanese families with Herlitz junctional epidermolysis bullosa
M. Kouno, R. Ko, A. Shimizu, T. Ouchi, K. Sueoka, T. Masunaga, A. Ishiko
「A Japanese-specific recurrent mutation and a novel splice site mutation in the LAMC2 gene identified in two Japanese families with Herlitz junctional epidermolysis bullosa」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。