2.Trichothiodystrophy Group A : A first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene

2.Trichothiodystrophy Group A : A first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene
Shinichi Moriwaki#, Hiroshi Saruwatari#, Nobuo Nakanishi#, Tamotsu Kanzaki, Takuro Kanekura, Shinsei Minoshima
# These authors contributed equally to this work.
J Dermatol. 2014 Aug;41(8):705-8.
2014年8月