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

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

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 50, Issue 2, May 2008, Pages 147-150

Takahiro Hamada, Shunpei Fukuda, Norito Ishii, Sachiko Sakaguchi, Takako Ishikawa, Toshifumi Abe, Shinichiro Yasumoto, Takashi Hashimoto, Hajime Nakano, Daisuke Sawamura,