Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Reference46 articles.
1. Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2:43.
2. Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet. 2008;9:359–86.
3. Huizing M, Malicdan MCV, Gochuico BR, Gahl WA. Hermansky-Pudlak Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle: University of Washington; 2017.
4. Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, et al. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mut. 2013;34:827–35.
5. Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, et al. Mutational analysis of the TYR and OCA2 genes in four Chinese families with oculocutaneous albinism. PLoS One. 2015;10:e0125651.
Cited by
12 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献