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Significats de monogenic disorder en anglès

An inherited disease controlled by a single pair of genes.

Sinònims
Examples for "monogenic disease"
Examples for "monogenic disease"
1
In 50 cases, there was a causative mutation in a known monogenic disease gene.
Pubmed
2
Our findings corroborate PIGP as a monogenic disease gene for developmental and epileptic encephalopathy.
Pubmed
3
Neurodegenerative monogenic diseases often affect tissues and organs beyond the nervous system.
Pubmed
4
Several acute monogenic diseases affect multiple body systems, causing death in childhood.
Pubmed
5
Syndromic forms are in many cases due to chromosomal aberrations or monogenic diseases.
Pubmed
Ús de monogenic disorder en anglès
1
Sickle-cell disease is one of the most common severe monogenic disorders in the world.
Pubmed
2
Recent breakthroughs in exome-sequencing technology have made possible the identification of many causal variants of monogenic disorders.
Pubmed
3
Currently according to the latest report of the international union of immunological societies, 37 separate monogenic disorders were classified as autoinflammatory.
Pubmed
4
The inherited disorders of hemoglobin, which include sickle cell disease and thalassemias, are the most common and widespread distributed monogenic disorders.
Pubmed
5
Inherited monogenic disorders such as beta-hemoglobinopathies (BH) are fitting candidates for treatment via gene therapy by gene transfer or gene editing.
Pubmed
6
Inborn errors of metabolism are monogenic disorders that can be inherited in autosomal recessive manner or, less frequently, in autosomal dominant or X-linked patterns.
Pubmed
7
Thus the approach provides a technique for the treatment of monogenic disorders associated with specific point mutations such as SCD (sickle cell disease).
Pubmed
8
Abstract Lysosomal storage diseases (LSDs) are a group of 40-50 rare monogenic disorders that result in disrupted lysosomal function and subsequent lysosomal pathology.
Pubmed