Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome

Takuji Masunaga, Hironori Niizeki, Fumiyo Yasuda, Kenji Yoshida, Masayuki Amagai, Akira Ishiko

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