Exploiting comprehensive genotype and sequence data enabled us to reveal two deleterious alleles in SLC2A2 and SUGT1 that compromise pre- and postnatal survival in homozygous state. Our results provide the basis for genome-assisted approaches to avoiding inadvertent carrier matings and to improving repr...
wt: wild-type allele; mut: mutant allele (c.631G 4A in family 1 and c.1456C 4T in family 2). European Journal of Human Genetics In the patients from the second family, sequencing of their genomic DNAs revealed homozygosity for a nonsense mutation, c.1456C4T that substitutes a ...
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Status of GSTP1 homozygous variant allele (Val/Val) genotype and susceptibility to colorectal cancer in Saudi Arabiadoi:10.4172/1948-5956.C1.058M. GariOMICS InternationalJournal of Cancer Science & Therapy
In this work, we describe the clinical manifestations of two young, unrelated patients diagnosed with DCM and presenting with a homozygous genotype for the two TNNI3 null mutations with, respectively, the highest and second-highest carrier frequencies in the general population. We also perform a re...
Common mutations were screened according to their frequency in the Exome Aggregation Consortium (ExAC) database (minor allele frequency [MAF] < 0.05); the results showed the existence of a new homozygous mutation in the FBXL4 gene C.993dupA, which had not previously been reported in the ExAC...
What is the genotype of a cross between homozygous dominant and homozygous recessive parents? What is the genotype of a homozygous individual for eye color, using B as the allele descriptor? Which allele is expressed in the dominant homozygous, heterozygous and homozygous recessive genotypes? What...
Heterozygous point mutations such as those in P525L Het are denoted by a slash, followed by the mutant allele. In the KO, the gray area represents a homozygous deletion (Δ) of 11,556 bp containing the entire FUS coding sequence, substituted by 2 point mutations. (C) Immunocytochemistry ...
Analysis of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in patients with obstructive azoospermia had a mutation in one allele and the 5T variant in the other; the 5T variant was also present in two other patients, one of them being homozygous... ALF Bernardino,CE Lima...
(B) Whole-exome sequencing data (using IGV 2.5.3 software) reflects exactly the phenotypic data with homozygous cases (V-1 and V-4), heterozygous normal parents (IV-1 and IV-2) and three normal with homozygous reference allele (V-2, V-5 and V-6). (C) Comparing COQ8B protein for...