Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA
- 1 June 1990
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 85 (1) , 123-124
- https://doi.org/10.1007/bf00276337
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.Keywords
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