Allele pairs are described using the terms heterozygous and homozygous. Every diploid entity comprises two copies of each of the genes, wherein each could be recessive or dominant. Dominant alleles are expressed to give rise to a phenotype, whereas the recessive alleles remain unexpressed. Both the...
Phenotype and genotype in homozygous and compound heterozygous FH patients - G. Reyes1, S Castillo1, P. Mozas1, D. Tejedor1, F. Civeira2, R. Alonso2, P. Mata2, F. Almagro2, M. Franco2, J. Tebar2, M. Pocovi1. 1Department of Biochemistry and Molecular Biology, University of ...
- 2002 - 192 - www.sciencedirect.comdoi:10.1016/S1567-5688(02)80585-2CROSSREFAtherosclerosis Supplements
Taken together, these results indicate that the MNV c.1256_1257delTCinsAA (p.Ile419Lys), specifically observed in the East Asian population, may be causative not only for FH in a heterozygous state but also for sitosterolemia in a homozygous or compound heterozygous state....
Long term breeding of the Lmna G609G progeric mouse: Characterization of homozygous and heterozygous models Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the cur... A Zaghini,G Sarli,C Bar...
Case report: neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus. Front Pediatr. 2023;11:1150179. Article PubMed Central PubMed Google Scholar Hansford JR, Pal M, Poplawski N, Haan E, Boog B, Ferrante A, et al. In ...
International Journal of Molecular Sciences Article Motor, Somatosensory, Viscerosensory and Metabolic Impairments in a Heterozygous Female Rat Model of Rett Syndrome Aritra Bhattacherjee 1,2, Michelle K. Winter 2, Linda S. Eggimann 2, Ying Mu 1,2, Sumedha Gunewardena 1,2, Zhaohui Liao 1,2...