Glucuronosyltransferase, UDP-
Deficiency, UDP-glucuronosyltransferase, Gilbert’s Disease.
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A rare familial form of progressive dementia inherited in an autosomal dominant manner due to a mutant prion gene on chromosome 20pter-p12. Abbreviated GSS. Degeneration of the nervous system usually starts in the fourth or fifth decade of life with slowly developing dysarthria (difficulty speaking) and cerebellar ataxia (wobbliness) and later the progressive dementia become […]
- Gerstmann-Straussler-Scheinker disease
Gerstmann-Sträussler-Scheinker syndrome.
- Gerstmann-Straussler syndrome
Gerstmann-Sträussler-Scheinker syndrome.
- Gerstmann-Straussler disease
Gerstmann-Sträussler-Scheinker syndrome.
- Germline mutation
A heritable change in the DNA that occurred in a germ cell (a cell destined to become an egg or in the sperm) or the zygote (the conceptus) at the single-cell stage. When transmitted to a child, a germline mutation is incorporated in every cell of their body. Germline mutations play a key role in […]