Hps6-KO 基因敲除小鼠

1. Karim, Sajjad, Saharti, Samah, Alganmi, Nofe, Al-Qahtani, Mohammed, Abuzenadah, Adel. 2021. Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism. In Life (Basel, Switzerland), 12, . doi:10.3390/life12010014. https://pubmed.ncbi.nlm.nih.gov/35054407/

2. Miyamichi, Daisuke, Asahina, Miki, Nakajima, Junya, Ogata, Tsutomu, Matsumoto, Naomichi. 2016. Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. In Journal of human genetics, 61, 839-42. doi:10.1038/jhg.2016.56. https://pubmed.ncbi.nlm.nih.gov/27225848/

3. Han, Chen G, O'Brien, Kevin J, Coon, Lea M, Krishnan, Koyamangalath, Gochuico, Bernadette R. 2018. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. In American journal of medical genetics. Part A, 176, 2819-2823. doi:10.1002/ajmg.a.40514. https://pubmed.ncbi.nlm.nih.gov/30369044/

4. Andres, Oliver, Wiegering, Verena, König, Eva-Maria, Klopocki, Eva, Schulze, Harald. 2016. A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. In Pediatric blood & cancer, 64, . doi:10.1002/pbc.26320. https://pubmed.ncbi.nlm.nih.gov/27917594/