Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development [2] Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development. Blood...
Results A novel homozygous missense variant (c.1339G > A, p.Gly447Arg) in the ATP8A2 gene was identified and completely segregated with the phenotype in the family. In silico analysis and structural modeling revealed that the p.G477R substitution is deleterious and induced undesired effects ...
Differences in allele, genotype, haplotype, and haplotype combination distribution between the groups were examined by chi(2) test. Distributions of alleles, genotypes, and haplotypes at three loci defined by examined SNPs were not significantly different between the groups. However, the homozygote ...
Homozygous mutation (A228T) in the 5-reductase type 2 gene in a boy with 5-reductase deficiency: Genotype-phenotype correlations (p 269-272) 喜欢 0 阅读量: 16 摘要: The molecular basis of a patient with 5-reductase deficiency was investigated in this study. This disease is a rare form ...
The generation and analysis of clones of cells with a genotype different from the rest of an organism has been used for studying molecular mechanisms underlying development. Genetic mosaics in Drosophila typically involve derivation of homozygous daughter cells from heterozygous precursors through mitotic ...
a cell lineage. To address this challenge, we have developed single-cell Multi-Task Network Inference (scMTNI), a multi-task learning framework to infer the GRN for each cell type on a lineage from scRNA-seq and scATAC-seq data. Using simulated and real datasets, we show that scMTNI is...
The c.1409 G > A (p.Arg470Gln) mutation, which was found homozygously in two sibs, was associated with a specific complex phenotype that included predominant visual loss due to optical nerve atrophy. Neuropathology in one of these cases showed severe degeneration of the optic system, with ...
For example, if all individuals homozygous for the risk allele had an odds ratio of 1.1, permuting the outside variant (i.e., randomly segregating risk/risk individuals) would generate a null distribution of odds ratios with a median of approximately 1.1. This approach enables quantification of...
(release 22); at least 80% alternative reads in homozygous genotypes; a percentage of alternative reads for heterozygous variants of ≥0.25 and ≤0.8; a binomial test of alternative allele proportion departure from 50% in the heterozygous state result ofP> 1 ×10−6; GQ of ≥20; FS ...
In family I, 4 boys and 1 girl were homozygous for a stop mutation in the 9th exon of AMHR-II, removing part of the intracellular domain of the protein. In family II, 1 girl and 1 boy were homozygous for a transversion changing conserved histidine 254 into a glutamine. Both homozygous...