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Molecular analyses of a tyrosinase-negative albino family.
Park KC, Chintamaneni CD, Halaban R, Witkop CJ Jr, Kwon BS. Park KC, et al. Am J Hum Genet. 1993 Feb;52(2):406-13. Am J Hum Genet. 1993. PMID: 8430701 Free PMC article.
Sequence analysis of the tyrosinase coding region from an individual with tyrosinase-negative oculocutaneous albinism revealed that the patient was a compound heterozygote. ...Moreover, gel electrophoretic analysis of the immunoprecipitated proband tyr …
Sequence analysis of the tyrosinase coding region from an individual with tyrosinase-negative oculocutaneous albinis …
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
Giebel LB, Strunk KM, King RA, Hanifin JM, Spritz RA. Giebel LB, et al. Proc Natl Acad Sci U S A. 1990 May;87(9):3255-8. doi: 10.1073/pnas.87.9.3255. Proc Natl Acad Sci U S A. 1990. PMID: 1970634 Free PMC article.
This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. …
This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed …
R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism.
Matsunaga J, Dakeishi M, Shimizu H, Tomita Y. Matsunaga J, et al. J Dermatol Sci. 1996 Nov;13(2):134-9. doi: 10.1016/s0923-1811(96)00519-1. J Dermatol Sci. 1996. PMID: 8953413
We examined the tyrosinase gene of two Japanese patients with tyrosinase-negative oculocutaneous albinism by allele-specific amplification analysis on two known point mutations in Japanese, and the results indicated that they were compound heterozygout …
We examined the tyrosinase gene of two Japanese patients with tyrosinase-negative oculocutaneous albinism by all …