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A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

We have determined a molecular defect to be the likely basis for inactivity of the tyrosinase (EC 1.14.18.1) from a patient with tyrosinase-negative oculocutaneous albinism. A single base (thymine) was inserted in exon 5 of the tyrosinase gene following codon 471 in the putative transmembrane coding...

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Hlavní autoři: Chintamaneni, C D, Halaban, R, Kobayashi, Y, Witkop, C J, Kwon, B S
Médium: Artigo
Jazyk:Inglês
Vydáno: 1991
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC51854/
https://ncbi.nlm.nih.gov/pubmed/1711223
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