Article
A trinucleotide deletion together with a base duplication event at codon 439 in the human tyrosinase gene identifies a mutational hotspot.
Clinica chimica acta; international journal of clinical chemistry - 15 Dec 1995
Breimer L H, Winder A F, Panayiotidis P, Jay M, Moore A, Jay B
Abstract excerpt
Molecular analysis of the human tyrosinase gene in two patients suffering from a temperature-sensitive form of albinism has identified a thymine triplet deletion at codon 439 which is accompanied by a duplication of the immediately preceding cytosine residue. This results in a two base pair frame shift leading to premature termination at codon 448, giving a truncated protein. Its relationship to other mutations...
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