Tyrosinase gene mutations in oculocutaneous albinism�1 (OCA1): definition of the phenotype

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

Randall K. Saiki, David H. Gelfand, Susanne Stoffel et al. · Science · 1988 · 17.2K citations

Life Sciences, Biotechnology, Molecular Biology +12

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Wei Li, Qing Zhang, Naoki Oiso et al. · Nature Genetics · 2003 · 432 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

Eugene M. Rinchik, Scott J. Bultman, Bernhard Horsthemke et al. · Nature · 1993 · 415 citations

Medicine, Genetics, Molecular Genetics +14

Mutations in the Human Orthologue of the Mouse underwhite Gene (uw) Underlie a New Form of Oculocutaneous Albinism, OCA4

J.M. Newton, Orit Cohen‐Barak, Nobuko Hagiwara et al. · The American Journal of Human Genetics · 2001 · 358 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

W. A. Gahl, Mark Brantly, Muriel I. Kaiser‐Kupfer et al. · New England Journal of Medicine · 1998 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15