نتایج جستجو برای: predominant mutations
تعداد نتایج: 215817 فیلتر نتایج به سال:
We find M-theory (Type IIA) duals for compactifications of the 9d CHL string to 5d (4d) on K3 (K3 × S 1). The IIA duals are Calabi-Yau orbifolds with nontrivial RR U (1) In ten dimensions, the consistent critical string theories with (at least) sixteen super-charges have been known since the 1980s. There are (after accounting for the S-duality of the two SO(32) theories) four. In D = 9, in addi...
The mutational spectrum of the p53 gene was analyzed in 53 hepatocellular carcinomas. Somatic mutations of the p53 gene were detected in 17 cases (32%). Among these 17 mutations, 9 were missense mutations; the mutations in the other 8 cases were nonsense mutations, deletions, or mutations at the intron-exon junctions. These mutations were found in a wide region stretching from exon 4 to exon 10...
PURPOSE Primary congenital glaucoma (PCG) is an autosomal recessive eye disorder that is postulated to result from developmental defects in the anterior eye segment. Mutations in the cytochrome P4501B1 (CYP1B1) gene are a predominant cause of congenital glaucoma. In this study we identify CYP1B1 mutations in PCG patients. METHODS Twenty-three unrelated PCG patients and 50 healthy controls wer...
We present a unified approach to quantum teleportation in arbitrary dimensions based on the Wigner-function formalism. This approach provides us with a clear picture of all manipulations performed in the telepor-tation protocol. In addition within the framework of the Wigner-function formalism all the imperfections of the manipulations can be easily taken into account. All quantum mechanical ph...
OBJECTIVE The clinical expression of maturity-onset diabetes of the young (MODY)-3 is highly variable. This may be due to environmental and/or genetic factors, including molecular characteristics of the hepatocyte nuclear factor 1-alpha (HNF1A) gene mutation. RESEARCH DESIGN AND METHODS We analyzed the mutations identified in 356 unrelated MODY3 patients, including 118 novel mutations, and se...
The role of preexisting minority drug-resistance mutations in treatment failure has not been fully understood in chronic hepatitis B patients. To understand mechanisms of drug resistance, we analyzed drug-resistance mutations in 46 treatment-failure patients and in 29 treatment-naïve patients and determined linkage patterns of the drug-resistance mutations in individual viral genomes using a hi...
Background: Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. Materials and Methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at t...
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