Missense mutations in MIP underlie autosomal dominant ‘polymorphic’ and lamellar cataracts linked to 12q

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

Gerene M. Denning, Matthew P. Anderson, Jane F. Amara et al. · Nature · 1992 · 1.2K citations

Life Sciences, Genetics, Molecular Biology +9

A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q

Alan Shiels, Donna S. Mackay, Alexander Ionides et al. · The American Journal of Human Genetics · 1998 · 383 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Structure and Function in Rhodopsin. 7. Point Mutations Associated with Autosomal Dominant Retinitis Pigmentosa

Shalesh Kaushal, H. Gobind Khorana · Biochemistry · 1994 · 330 citations

Life Sciences, Genetics, Molecular Biology +9

Connexin46 Mutations in Autosomal Dominant Congenital Cataract

Donna S. Mackay, Alexander Ionides, Zoha Kibar et al. · The American Journal of Human Genetics · 1999 · 300 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Mutations in the founder of the MIP gene family underlie cataract development in the mouse

Alan Shiels, Steven Bassnett · Nature Genetics · 1996 · 279 citations

Medicine, Genetics, Molecular Genetics +10