1. Li, Meng, Fu, Huayu, Li, Jiao, Zhang, Qiang, Fei, Dongmei. 2022. Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus. In The journal of obstetrics and gynaecology research, 48, 2624-2629. doi:10.1111/jog.15358. https://pubmed.ncbi.nlm.nih.gov/35843586/
2. Song, Danyu, Dai, Yi, Chen, Xiaoyu, Toda, Tatsushi, Xiong, Hui. 2021. Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. In Clinical genetics, 99, 384-395. doi:10.1111/cge.13886. https://pubmed.ncbi.nlm.nih.gov/33200426/
3. Ohara, Hiroaki, Hosokawa, Motoyasu, Awaya, Tomonari, Nishino, Ichizo, Hagiwara, Masatoshi. 2023. Branchpoints as potential targets of exon-skipping therapies for genetic disorders. In Molecular therapy. Nucleic acids, 33, 404-412. doi:10.1016/j.omtn.2023.07.011. https://pubmed.ncbi.nlm.nih.gov/37547287/
4. Arimura, Takuro, Hayashi, Yukiko K, Murakami, Terumi, Nishino, Ichizo, Kimura, Akinori. 2008. Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. In Circulation journal : official journal of the Japanese Circulation Society, 73, 158-61. doi:. https://pubmed.ncbi.nlm.nih.gov/19015585/
5. Beedle, Aaron M, Turner, Amy J, Saito, Yoshiaki, Nienaber, Patricia M, Campbell, Kevin P. 2012. Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. In The Journal of clinical investigation, 122, 3330-42. doi:10.1172/JCI63004. https://pubmed.ncbi.nlm.nih.gov/22922256/