A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma
一家族中发现FH基因的新型致病变异,该家族患有遗传性平滑肌瘤病和肾细胞癌
期刊:Human Genome Variation
影响因子:1.3
doi:10.1038/s41439-021-00180-8
Yagi, Yasuto; Abeto, Naoko; Shiraishi, Junichi; Miyata, Chieko; Inoue, Satomi; Murakami, Haruka; Nakashima, Moeko; Sugano, Kokichi; Ushiama, Mineko; Yoshida, Teruhiko; Yamazawa, Kazuki