Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-ls in a Japanese patient with Perlman syndrome.
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-ls in a Japanese patient with Perlman syndrome.
复制标题
日本帕尔曼综合征患者由于 LINE-ls 之间的非等位同源重组导致 DIS3L2 外显子 9 纯合缺失。
作者：
志賀真理;下村英毅;西山紋惠;谷澤隆邦;荒田晶子;金津嘉徳;金津嘉徳;Hideki Hatta;八田 秀樹;八田 秀樹;藤澤良秀;西田 健志;西田 健志;Higashimoto K;Rumbajan JM;Higashimoto K
