共 50 条
- [1] Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1) [J]. PLOS ONE, 2014, 9 (09):
- [3] Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype [J]. Human Genetics, 2003, 113 : 502 - 513
- [7] ANALYSIS OF TYROSINASE MUTATIONS ASSOCIATED WITH TYROSINASE-RELATED OCULOCUTANEOUS ALBINISM (OCA1) [J]. PIGMENT CELL RESEARCH, 1994, 7 (05): : 285 - 290
- [8] Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families:: two novel frameshift mutations in the TYR gene [J]. MOLECULAR VISION, 2004, 10 (118-20): : 1005 - 1010
- [10] Tyrosinase gene (TYR) mutations in Chinese patients with oculocutaneous albinism type 1 [J]. CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2010, 38 (01): : 37 - 42