• Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=7905727).
  

PubMed=2778352; DOI=10.1111/1523-1747.ep12284060
Chikako Nishigori, Yoshiki Miyachi, Sadao Imamura, Hiraku Takebe;
Reduced superoxide dismutase activity in xeroderma pigmentosum fibroblasts.
J. Invest. Dermatol. 93:506-510(1989)

PubMed=8101209; DOI=10.1111/1523-1747.ep12360046
Shin-ichi Moriwaki, Chikako Nishigori, Tatsuyuki Teramoto, Toshihiro Tanaka, Satoshi Kore-eda, Hiraku Takebe, Sadao Imamura;
Absence of DNA repair deficiency in the confirmed heterozygotes of xeroderma pigmentosum group A.
J. Invest. Dermatol. 101:69-72(1993)

PubMed=7905727; DOI=10.1001/archderm.1994.01690020057009
Chikako Nishigori, Shinichi Moriwaki, Hiraku Takebe, Toshihiro Tanaka, Sadao Imamura;
Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.
Arch. Dermatol. 130:191-197(1994)

PubMed=8596539; DOI=10.1016/0921-8777(95)00052-6
Mayumi Sato, Chikako Nishigori, Takashi Yagi, Hiraku Takebe;
Aberrant splicing and truncated-protein expression due to a newly identified XPA gene mutation.
Mutat. Res. 362:199-208(1996)