Summary
Enzymatic DNA amplification and direct DNA sequencing were used to detect a mutation in the tyrosinase gene of an albino patient. Single-base change could be detected by direct sequencing. This base change (G to A) is thought to result in an amino acid change (Arg to Gln) in tyrosinase of the patient.
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Kikuchi, H., Hara, S., Ishiguro, S. et al. Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA. Hum Genet 85, 123–124 (1990). https://doi.org/10.1007/BF00276337
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DOI: https://doi.org/10.1007/BF00276337