Barend F T Hogewind Ronald J E Pennings Frans A Hol Henricus P M Kunst Elisabeth H Hoefsloot Johannes R M Cruysberg Cor W R J Cremers
Mol Vis
2010 Jan 12;16:26-35.
CC BY
https://pubmed.ncbi.nlm.nih.gov/20069065/
Genes, Dominant / genetics Hearing Loss, Sensorineural / complications Hearing Loss, Sensorineural / genetics Membrane Proteins / genetics Mutation / genetics Optic Nerve Diseases / complications Optic Nerve Diseases / genetics
Genes, Dominant / genetics Hearing Loss, Sensorineural / complications Hearing Loss, Sensorineural / genetics Membrane Proteins / genetics Mutation / genetics Optic Nerve Diseases / complications Optic Nerve Diseases / genetics Adult Aged, 80 and over Amino Acid Sequence Base Sequence Conserved Sequence DNA Mutational Analysis Diabetes Mellitus / genetics Evolution, Molecular Family Female Genetic Association Studies Genetic Predisposition to Disease Hearing Loss, Sensorineural / physiopathology Hearing Tests Humans Male Membrane Proteins / chemistry Middle Aged Molecular Sequence Data Ocular Physiological Phenomena Optic Nerve Diseases / physiopathology Pedigree Phenotype Young Adult Membrane Proteins wolframin protein
PMC2805421
20069065
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1
2010