Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.
Ye LinXihui ChenYing YangFengyu CheSijia ZhangLijuan YuanYuanming WuPublished in: Molecular genetics & genomic medicine (2019)
In this study, specific clinical characteristics of OCA patients were described. Three novel pathogenic mutations were identified which will enrich the mutation spectrum of OCA, and the prenatal genetic screening in fetus at risk of OCA can provide vital information for genetic counseling.
Keyphrases
- genome wide
- end stage renal disease
- ejection fraction
- chronic kidney disease
- newly diagnosed
- pregnant women
- copy number
- prognostic factors
- peritoneal dialysis
- dna methylation
- healthcare
- gene expression
- patient reported outcomes
- smoking cessation
- hepatitis c virus
- social media
- transcription factor
- human immunodeficiency virus
- hiv infected
- genome wide identification