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

✍ Scribed by Hideaki Kikuchi; Satoshi Hara; Seiichi Ishiguro; Makoto Tamai; Minro Watanabe

Publisher: Springer
Year: 1990
Tongue: English
Weight: 291 KB
Volume: 85
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00276337

No coin nor oath required. For personal study only.

✦ Synopsis

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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