caa a22 4500 467984522 CHVBK 20180323112528.0 cr unu---uuuuu 170328e19900601xx s 000 0 eng 10.1007/BF00276337 doi (NATIONALLICENCE)springer-10.1007/BF00276337 Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA [Elektronische Daten] [Hideaki Kikuchi, Satoshi Hara, Seiichi Ishiguro, Makoto Tamai, Minro Watanabe] 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. Springer-Verlag, 1990 Kikuchi Hideaki Laboratory of Cancer Chemotherapy and Prevention, The Research Institute for Tuberculosis and Cancer, 4-1 Seiryomachi, Aobaku, 980, Sendai, Japan aut Hara Satoshi Department of Ophthalmology, School of Medicine, Tohoku University, 4-1 Seiryomachi, Aobaku, 980, Sendai, Japan aut Ishiguro Seiichi Department of Ophthalmology, School of Medicine, Tohoku University, 4-1 Seiryomachi, Aobaku, 980, Sendai, Japan aut Tamai Makoto Department of Ophthalmology, School of Medicine, Tohoku University, 4-1 Seiryomachi, Aobaku, 980, Sendai, Japan aut Watanabe Minro Laboratory of Cancer Chemotherapy and Prevention, The Research Institute for Tuberculosis and Cancer, 4-1 Seiryomachi, Aobaku, 980, Sendai, Japan aut Human Genetics Springer-Verlag 85/1(1990-06-01), 123-124 0340-6717 85:1<123 1990 85 439 https://doi.org/10.1007/BF00276337 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00276337 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kikuchi Hideaki Laboratory of Cancer Chemotherapy and Prevention, The Research Institute for Tuberculosis and Cancer, 4-1 Seiryomachi, Aobaku, 980, Sendai, Japan aut NATIONALLICENCE 700 1- Hara Satoshi Department of Ophthalmology, School of Medicine, Tohoku University, 4-1 Seiryomachi, Aobaku, 980, Sendai, Japan aut NATIONALLICENCE 700 1- Ishiguro Seiichi Department of Ophthalmology, School of Medicine, Tohoku University, 4-1 Seiryomachi, Aobaku, 980, Sendai, Japan aut NATIONALLICENCE 700 1- Tamai Makoto Department of Ophthalmology, School of Medicine, Tohoku University, 4-1 Seiryomachi, Aobaku, 980, Sendai, Japan aut NATIONALLICENCE 700 1- Watanabe Minro Laboratory of Cancer Chemotherapy and Prevention, The Research Institute for Tuberculosis and Cancer, 4-1 Seiryomachi, Aobaku, 980, Sendai, Japan aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/1(1990-06-01), 123-124 0340-6717 85:1<123 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer