T1DM is different from monogenic
diabetes mellitus, which is a relatively rare form of dysglycaemia.
Interestingly, she said, majority of such and other genetic causes of monogenic
obesity were reported from cohort of Pakistani origin -- identifying genetic basis of severe obesity in children from consanguineous population.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening monogenic
CF is the most frequent monogenic
disease in Caucasians but is rare in Asian.
This condition is called monogenic
diabetes and is diagnosed based on certain criteria, specifically, genetic testing.
Contract notice: Pa 2017-0-128: Supply of reagents and material for gene studies (hla-transplantation, Monogenic
diseases and snps), Serological techniques and cell culture material, For the university hospital 12 de octubre.
AVXS-101 is a proprietary gene therapy candidate of a one-time treatment for SMA Types 1 and 2, designed to address the monogenic
root cause of SMA and prevent further muscle degeneration by addressing the defective and/or loss of the primary SMN gene.
Genetic causes of monogenic
heterozygous familial hypercholesterolemia: a HuGE prevalence review.
In this way, simple illustrations incorporate a considerable amount of information that provides the opportunity to determine genotype and phenotype probabilities for monogenic
Mendelian traits without the need to draw Punnett square for every parental genotype combination.
This is especially important in terms of rare monogenic
diseases (hereditary autoinflammatory diseases), which constitute a part of inflammation-based diseases that occur in childhood.
Mutations in some of the genes highlighted are also known to be associated with severe monogenic
syndromes-conditions caused by a single genetic mutations-characterised by compromised muscle function.
Most rare diseases are genetic and include congenital abnormalities in growth, chromosomal monogenic
syndromes, skeletal malformations, hereditary metabolic diseases, and hereditary cancers.