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280
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optic acid
- ... oxidative phosphorylation. The mutations responsible for Leber hereditary optic neuropathy change single amino acids in these proteins, which may affect the generation ...
- Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) is a neurological disorder that can also affect many other body systems. This ...
- ... the PAX6 gene can cause a variety of eye problems. Most of these mutations change single amino acids in the PAX6 protein. These mutations reduce but do not eliminate the protein's normal function, impairing its role as a ... in the eye (ectopia papillae) or underdeveloped optic nerves, which are ...
- ... affect many body systems in addition to the eyes. Variants that delete or change single amino acids usually result in less widespread effects. More About ...
- ... in coloring (pigmentation) of the hair, skin, and eyes. Some MITF gene variants change the amino acids used to make melanocyte inducing transcription factor, which ...
- ... childhood and primarily affects the skin, joints, and eyes. These mutations change single protein building blocks (amino acids) in the NOD2 protein. All of these mutations ...
- ... problems with side-to-side movements of the eyes (oculomotor apraxia). Most mutations replace single protein building blocks (amino acids) in senataxin. The mutations associated with ataxia with ...
- ... problems with side-to-side movements of the eyes (oculomotor apraxia). Most mutations change single protein building blocks (amino acids) in aprataxin, resulting in an unstable aprataxin protein ...
- ... condition characterized by kidney disease, hearing loss, and eye abnormalities. Most of these variants change single protein building blocks (amino acids) in a region where the alpha4(IV) collagen ...
- ... condition characterized by kidney disease, hearing loss, and eye abnormalities. Most of these variants change single protein building blocks (amino acids) in a region where the alpha5(IV) collagen ...
