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. 1990 Jun;85(1):123-4.
doi: 10.1007/BF00276337.

Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA

H Kikuchi  1 , S Hara, S Ishiguro, M Tamai, M Watanabe
Affiliations

Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA

H Kikuchi et al. Hum Genet. 1990 Jun.

Abstract

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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References

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