نتایج جستجو برای: i gene exon 1 the single
تعداد نتایج: 16965944 فیلتر نتایج به سال:
Background: Autosomal recessive polycystic kidney disorder (ARPCKD) is one of the most prevalent hereditary disorders in neonates and children. Its frequency is between 1/6000 to 1/55000 births. In the most severe cases, it can be diagnosed prenatally by the presence of enlarged, echogenic kidneys and oligohydramnios. However, in the milder forms, clinical manifestations are usually detected in...
the space now known as complete erdos space ec was introduced by paul erdos in 1940 as the closed subspace of the hilbert space ?2 consisting of all vectors such that every coordinate is in the convergent sequence {0} ? { 1 n : n ? n}. in a solution to a problem posed by lex g. oversteegen we present simple and useful topological characterizations of ec. as an application we determine the ...
We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single-strand conformation polymorphism (SSCP) to detect the mutations. Direct sequencing of the mutant PCR products demonstrated single transitions in th...
diacylglycerol acyltransferase1 (dgat1) has been introduced as a strong potential candidate gene for milk fat content in cattle. dgat1 gene plays a key role in the final step of triglyceride synthesis. in this study, the genetic variability in the region spanning exon 1 to exon 2 of the buffalo dgat1 gene was investigated by dna sequencing. two hundred buffaloes belonging to three indigenous po...
The insulin-like growth factor I (IGF I) receptor is a tyrosine kinase-containing transmembrane protein that plays an important role in cell growth control. We have isolated and characterized human genomic DNA clones containing the entire coding sequence of the IGF I receptor. Results of restriction analysis and sequencing of multiple overlapping clones were consistent with the existence of a s...
We describe the cloning, sequencing and structure of the human fast skeletal troponin T (TNNT3) gene located on chromosome 11p15.5. The single-copy gene encodes 19 exons and 18 introns. Eleven of these exons, 1-3, 9-15 and 18, are constitutively spliced, whereas exons 4-8 are alternatively spliced. The gene contains an additional subset of developmentally regulated and alternatively spliced exo...
UDP-GlcNAc: alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I (EC 2.4.1.101; GlcNAc-T I) is a medial-Golgi enzyme which catalyses the first step in the conversion of oligomannose-type to N-acetyl-lactosamine- and hybrid-type N-glycans and is essential for normal embryogenesis in the mouse. Previous work indicated the presence of at least two exons in the human GlcNAc-T I gene MGAT1...
the hypothesis is that recent and frequent exposure to lexical items leads to a more fluent production of speech in terms of rate of speech. to test the hypothesis,a one-way anova experimental design was carried out. 24 sednior students of efl participated in a one-way interview test. data analyses revealed that those who were exposed frequently to the lexical items over a week prior to inter...
Familial adenomatous polyposis (FAP) is responsible for <1% of colorectal cancer (CRC) cases and is inherited as an autosomal dominant trait. Patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. Here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (APC) tumo...
Tapasin is a transmembrane glycoprotein located in the endoplasmic reticulum. Its function is to assist the assembly of major histocompatibility complex class I molecules. The chicken Tapasin gene includes 8 exons and is localized inside the major histocompatibility complex between the 2 class IIbeta genes. The aim of the current study was the estimation of single nucleotide polymorphism freque...
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