A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.
Chintamaneni C, Halaban R, Kobayashi Y, Witkop C, Kwon B. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. Proceedings Of The National Academy Of Sciences Of The United States Of America 1991, 88: 5272-5276. PMID: 1711223, PMCID: PMC51854, DOI: 10.1073/pnas.88.12.5272.Peer-Reviewed Original Research