Results 111 to 120 of about 78,400 (304)
Elevated Hemoglobin A2: A Molecular Revisited, and Implications to β‐Thalassemia Screening
Journal of Clinical Laboratory Analysis, EarlyView.In Thailand, the Hb A2 cut‐off value for β‐thalassemia carrier has been changed from 4.0% to 3.6% since 2015. We examined the molecular basis of β‐thalassemia in a large cohort of Thai subjects with this change. The molecular basis of β‐thalassemia was updated, and a change in the Hb A2 cut‐off can alter this spectrum.
Kritsada Singha +8 more
wiley +1 more source
Detail view of homozygote vs. heterozygote RAM response times.
, 2013 Panels A and B show the RAM response times (Rt) for Wt and heterozygote DNA samples hybridized to the Wt-detecting C-probe. Panels C and D show the RAM response times for Ht and Mt DNA samples hybridized to the Mt-detecting C-probe, respectively.
Thomas P. Beals (415547) +1 more
core +1 more source
Presynaptic Congenital Myasthenic Syndromes
Muscle &Nerve, EarlyView.ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley +1 more source
Guangxi Yike Daxue xuebaoObjective To study the influence of KLF1 gene mutations on fetal hemoglobin (Hb F) levels and their effects on thalassemia. Methods Cases undergoing thalassemia screening at the First Affiliated Hospital of Guangxi Medical University from March 2023 to ...
Zixuan CHAI +3 more
doaj +1 more source
Citation: 'heterozygote' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.15775 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire +1 more source
A compound heterozygote case of isolated sulfite oxidase deficiency
, 2017 We report an isolated sulfite oxidase deficiency in the first child boy of a non-consanguineous Caucasian family. He's a compound heterozygote for the sulfite oxidase gene, presenting low cystine, undetectable homocysteine and normal uric acid blood ...
Brumaru, Daniel +9 more
core +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
MUTATIONAL HETEROZYGOTES IN BACTERIOPHAGES [PDF]
Proceedings of the National Academy of Sciences, 1959 D, Pratt, G S, Stent
openaire +2 more sources
PLANTS, PEOPLE, PLANET, EarlyView.Biodiversity is threatened by human activities, with extinction debt accumulating rapidly. Many of these activities change the connectivity of populations, fragmenting existing population systems or bringing previously isolated populations or species into contact.
Zhiqin Long +7 more
wiley +1 more source
Does MHC heterozygosity influence microbiota form and function?
PLoS ONE, 2019 MHC molecules are essential for the adaptive immune response, and they are the most polymorphic genetic loci in vertebrates. Extreme genetic variation at these loci is paradoxical given their central importance to host health.
M A Wadud Khan +4 more
doaj +1 more source