A Comprehensive Analysis Reveals Mutational Spectra and Common Alleles in Chinese Patients with Oculocutaneous Albinism

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A Genomewide Association Study of Skin Pigmentation in a South Asian Population

Renee Stokowski, P.V. Krishna Pant, Tony Dadd et al. · The American Journal of Human Genetics · 2007 · 330 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Richard A. King, Jacy Pietsch, James P. Fryer et al. · Human Genetics · 2003 · 170 citations

Life Sciences, Genetics, Ophthalmology +11

Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in Japan

Katsuhiko Inagaki, Tamio Suzuki, Hiroshi Shimizu et al. · The American Journal of Human Genetics · 2004 · 166 citations · Full text

Medicine, Ophthalmology, Ocular Disease +2

Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

Jangsuk Oh, Lingling Ho, Sirpa Ala‐Mello et al. · The American Journal of Human Genetics · 1998 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16