X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1.

Sex chromatin and gene action in the mammalian X-chromosome.

Mary F. Lyon · PubMed · 1962 · 1K citations

Life Sciences, Genetics, Molecular Genetics +16

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)

A Meindl, Katherine L. Dry, Karin A. Herrmann et al. · Nature Genetics · 1996 · 480 citations

Medicine, Genetics, Molecular Genetics +2

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

Maria Teresa Bassi, Maria Vittoria Schiaffino, Alessandra Renieri et al. · Nature Genetics · 1995 · 207 citations

Life Sciences, Genetics, Molecular Genetics +10

X-Linked Ocular Albinism

Francis E. O’Donnell · Archives of Ophthalmology · 1976 · 175 citations

Medicine, Dermatology, Pathology +10

Visual System Anomalies in Human Ocular Albinos

Donnell J. Creel, Frank E. O'Donnell, Carl J. Witkop · Science · 1978 · 173 citations

Medicine, Neuroscience, Ophthalmology +16