Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder
在两个患有常染色体隐性端粒生物学疾病的家族中鉴定出双等位基因POLA2变异。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01722-8
Kvarnung, Malin; Pettersson, Maria; Chun-On, Pattra; Rafati, Maryam; McReynolds, Lisa J; Norberg, Anna; Moura, Pedro Luis; Pesonen, Ida; Chaireti, Roza; Grönros Söderholm, Boa; Burlin, Julia; Rydén, Jenny; Lindberg, Eva Hellström; Giri, Neelam; Savage, Sharon A; Agarwal, Suneet; Nordgren, Ann; Tesi, Bianca