Konstantin Petrukhin

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

Rudolph E. Tanzi, Konstantin Petrukhin, Jean‐Luc Pellequer et al. · Nature Genetics · 1993 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +10

Identification of the gene responsible for Best macular dystrophy

Konstantin Petrukhin, Markus J. Koisti, Benjamin Bakall et al. · Nature Genetics · 1998 · 686 citations

Medicine, Genetics, Molecular Genetics +12

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

Konstantin Petrukhin, S G Fischer, Mario Pirastu et al. · Nature Genetics · 1993 · 509 citations

Life Sciences, Genetics, Molecular Genetics +8

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

Kang Zhang, Marina Kniazeva, Min Han et al. · Nature Genetics · 2001 · 457 citations

Medicine, Genetics, Molecular Genetics +12

Bestrophin, the product of the Best vitelliform macular dystrophy gene ( <i>VMD2</i> ), localizes to the basolateral plasma membrane of the retinal pigment epithelium

Alan D. Marmorstein, Lihua Y. Marmorstein, Mary E. Rayborn et al. · Proceedings of the National Academy of Sciences · 2000 · 453 citations · Full text

Medicine, Genetics, Ophthalmology +15