نتایج جستجو برای: novel mutation
تعداد نتایج: 1043934 فیلتر نتایج به سال:
Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
Background CombinedMethylmalonic Aciduria (MMA), and homocystinuria CblC type is the most common inborn error of cobalamin metabolism with 77 mutations identified till date in the MMACHC gene. The disease has early and late presentations with varied clinical features. Case report A pair of preterm monochorionic twins was born to non-consanguineous parents with history of 2 previous infant deat...
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...
Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...
as the canon is shaped by white male standards rewriting the canonical works of literature is one of the ways through which postcolonial writers subvert the authority of the masters. writing in the language of the masters the colonized writers use the very suppressive tool in the hands of the masters i.e. their language to question the validity of their norms. regarded by most critics to be the...
OBJECTIVE To investigate the degree of genetic heterogeneity of myophosphorylase deficiency (McArdle disease) in Spain through molecular studies of 10 new patients. DESIGN The coding sequence of the entire myophosphorylase gene was sequenced in DNA extracted from muscle and blood. Restriction fragment length polymorphism analysis of polymerase chain reaction fragments was used to confirm and ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید