Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion
Taiwanese Journal of Obstetrics & Gynecology, 2018 Objective: The thalassemias is a group of hereditary disorders with impaired production of functional hemoglobin. In this report we described a rare case of compound heterozygous mutation of South-East Asia type hereditary persistence of fetal hemoglobin
Ha Ly Thi Thanh +8 more
doaj +1 more source
GENE CONVERSION AND TRANSFER OF GENETIC INFORMATION WITHIN THE INVERTED REGION OF INVERSION HETEROZYGOTES [PDF]
, 1973 Arthur Chovnick
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Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers
Movement Disorders, EarlyView.Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes +7 more
wiley +1 more source
Development of a high-throughput microsatellite typing approach for forensic and population genetic analysis of wild and domestic African Bovini [PDF]
, 2008 Conservation management and forensic traceability of African buffalo and cattle rely on the timely provision of unbiased and accurate genetic information.
Bastos, A.D.S. +6 more
core +1 more source
Double Heterozygotes for the Ashkenazi Founder Mutations in BRCA1 and BRCA2 Genes [PDF]
, 1998 Eitan Friedman +14 more
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Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review [PDF]
, 2023 Zhijun Liu, Yaling Wang, Yan Xu
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Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Although classically characterized as a motor neuron disease, spinal muscular atrophy (SMA) is increasingly recognized as a multisystem disorder. We previously showed hepatocyte‐intrinsic steatosis in SMA, raising the question of whether SMA carriers, who are typically asymptomatic, may also exhibit subclinical hepatic ...
Lingyu Sun +15 more
wiley +1 more source
Detection of quantitative trait loci for locomotion and osteochondrosis-related traits in Large White x Meishan pigs. [PDF]
, 2003 Data from the F2 generation of a Large White (LW) 5 Meishan (MS) crossbred population were analysed to detect quantitative trait loci (QTL) for leg and gait scores, osteochondrosis and physis scores.
Archibald, Alan +6 more
core
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
depistage des porteurs heterozygotes pourra-t-il diminuer tres sensiblement, voire supprimer, la morbidite de certaines maladies hereditaires [PDF]
, 2012 Marcel-J. Mélançon
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