But those studies failed to identify the mutation responsible for his case.
Cubas, P., Vincent, C. & Coen, E. An epigenetic mutation responsible for natural variation in floral symmetry.
The F.D.A. has approved a drug for patients with a genetic mutation responsible for some cases of the disease, which clogs the lungs with thick, sticky mucus.
The treatment, called Luxturna, aims to correct a mutation responsible for a range of retinal diseases that make people gradually go blind.
In addition, the most common mutation responsible for ALS and FTD — hexanucleotide expansions in the first intron of C9orf7211,12 — also impairs nucleocytoplasmic transport22,23,24,25,75.
Zhou, X., Benson, K. F., Ashar, H. R. & Chada, K. Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C.
Last year, Dr. Barsh and his laboratory identified a gene mutation responsible for the protein beta-defensin 3, which regulates melanism in dogs.
Prior to the study, only 8 percent of A. gambiae mosquitoes carried the genetic mutation responsible for resistance.
In a pair of landmark studies in Neuron in 2011, researchers identified the genetic mutation responsible for most cases of inherited ALS and frontotemporal dementia.
Scientists have used a new gene-editing technology called CRISPR, to repair a genetic mutation responsible for vision loss in patient-derived stem cells.
The combination of research findings led the scientists to chromosome 4, and more specifically, the mutation responsible for HD in 1993.
