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A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico
W. S. Oetting
, C. J. Witkop
, S. A. Brown
, R. Colomer
, J. P. Fryer
, K. E. Bloom
, R. A. King
Experimental and Clinical Pharmacology
Medicine - Administration
Research output
:
Contribution to journal
›
Article
›
peer-review
35
Scopus citations
Overview
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Dive into the research topics of 'A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico'. Together they form a unique fingerprint.
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Keyphrases
Missense mutation
100%
Gene mutation
100%
Puerto Rico
100%
Oculocutaneous Albinism
100%
Tyrosinase
100%
Tyrosinase Gene
100%
Canary Islands
40%
United States
20%
Nonsense mutation
20%
Polymorphism
20%
Hispanic
20%
Recombination
20%
Novel mutation
20%
Exon
20%
Haplotype Analysis
20%
Codon
20%
Recurring
20%
Compound Heterozygous mutation
20%
Common Founder
20%
Extended Family
20%
Population Migration
20%
Codon 47
20%
Puerto Ricans
20%
Biochemistry, Genetics and Molecular Biology
Albinism
100%
Missense Mutation
100%
Gene Mutation
100%
Tyrosinase
100%
Haplotype
83%
Allele
33%
Serinus
33%
Codon
33%
Exon
16%
Heterozygote
16%
Genetic Carrier
16%
Nonsense Mutation
16%
Population Migration
16%