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Using fruit flies, Johns Hopkins researchers have figured out why a particular inherited human heart condition that is almost always due to genetic mutations causes the heart to enlarge, thicken and f...
Breast cancer cells that carry a certain gene mutation can be induced to die using a combination of an existing targeted therapy along with an investigational molecule tested by Duke Cancer Institute ...
Background: B vitamins [vitamins B-6, B-9 (folate), and B-12] play important roles in nucleotide biosynthesis and biological methylation reactions, aberrancies of which have all been implicated in car...
Down syndrome, or trisomy 21, is a complex genetic disease resulting from the presence of 3 copies of chromosome 21. The origin of the extra chromosome is maternal in 95% of cases and is due to the...
Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations a...
Introduction:: Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The severity of the resultant bleeding diathesis depends on the FVIII levels associated with the mutatio...
Background: Primary hemochromatosis is an inherited disorder. Mutation in this gene is accompanied with iron overload in the body leading to organ failure that primarily affects liver. Individuals wi...
Background: Mitochondria is one of the intracellular organelle with specific DNA. Some diseases caused by mtDNA mutations have been reported up to now. Mutation of A3243G and deletion of 5kb are two o...
Background: In this study, erythromycin resistance isolates from the students with aged 12-15 yr old were studied and the mutations in the 23S rRNA were identified by sequencing.Methods: Throat sample...
Cystic fibrosis (CF) is a well-known inherited multisystem disorder characterised primarily by chronic obstructive lung disease and maldigestion. The frequency of the disease varies among ethnic group...
Genetic alterations in proto-oncogenes or tumour suppressor genes are believed to be one of the key events in the multistage process of carcinogenesis. Activating point mutations occurring in either o...
b-Thalassemia, one of the most widespread genetic diseases in the world, is an autosomal recessive disease generally caused by point mutations in the b-globin gene that is located as a cluster on the ...
Today, technological development continues in the mutational analysis area of molecular medicine. In the past few years, the necessity to screen amplified DNA products to identify mutations or polymor...
Aim: Familial Mediterranean fever (FMF) is an autosomal recessive disease. Arg202Gln was reported as a frequent polymorphism, and G allele of the mutation was in linkage disequilibrium with M694V. Thu...

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