Mutation spectrum and splicing variants in the OPA1 gene

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Analytical Biochemistry · 1987 · 63.2K citations

Nucleic Acid Chemistry, Engineering, Natural Sciences +7

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.4K citations · Full text

Chromatin, Dna Sequencing, Molecular Biological Method +11

Predicting Coiled Coils from Protein Sequences

Andrei N. Lupas, Marc Van Dyke, Jeff Stock · Science · 1991 · 4K citations

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Cécile Delettre, Guy Lenaers, Jean‐Michel Griffoin et al. · Nature Genetics · 2000 · 1.4K citations

Neurodegenerative Diseases, Mitochondrial Function, Ophthalmology +9

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Christiane Alexander, Marcela Votruba, Ulrike E. A. Pesch et al. · Nature Genetics · 2000 · 1.3K citations

Mendelian Disorder, Dynamin-related Gtpase, Genetic Disorder +6