Results 191 to 200 of about 8,590 (232)

Clinical relevance of heterozygosis for aceruloplasminemia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2019
Aceruloplasminemia is a rare form of brain iron overload of autosomal recessive inheritance that results from mutations in the CP gene, encoding the iron oxidase ceruloplasmin.
M. D. Borges, D. M. de Albuquerque, C. Lanaro, F. Costa, K. Fertrin   +4 more
semanticscholar   +3 more sources

Heterozygosis and Breeding

, 2017
The penultimate aim of any breeding programme is to derive a clone with enhanced dry rubber yield (g tree−1 tap−1) and, if possible, with improved secondary attributes like resistance to diseases and high/low temperature stresses. The efficient use of the available genetic variability in the form of clones is further augmented through bud grafting ...
P. Priyadarshan
semanticscholar   +2 more sources

Heterozygosis and Pathogenicity of Cryptococcusneoformans AD-Hybrid Isolates

Mycopathologia, 2011
Nineteen Cryptococcus neoformans AD-hybrid isolates were investigated to assess whether hybrid genomic background could affect virulence in a mouse model. The level of heterozygosity of each strain was analyzed using primers specific for allele A and D of 15 polymorphic genes.
Massimo Cogliati, Francesco Barchiesi, E. Spreghini, A. Tortorano   +3 more
semanticscholar   +3 more sources

Lung function decline in patients with alpha1-antitripsin heterozygosis: preliminary data

Molecular pathology and funct. genomics, 2020
P. Gaboardi, E. Franceschi, A. Cristiano, A. Airoldi, M. Rizzi, D. Radovanovic, P. Santus   +6 more
semanticscholar   +2 more sources

Heterozygosis and recombination of bacteriophage λ

Virology, 1962
Abstract In the yield from bacteria simultaneously infected with two different mutants of λ phages, heterozygous particles are found which, in a subsequent cycle of multiplication, segregate two different genotypes. The heterozygotes are extremely rare (less than 10 −4 ) in normal growth conditions; after strong UV irradiation of the host bacteria ...
G, KELLENBERGER, M L, ZICHICHI, H T, EPSTEIN   +2 more
openaire   +2 more sources

Search of heterozygosis in quantitative characters

Annals of Human Genetics, 1978
SummaryA method is described of searching for heterozygotes in a quantitative character, based on the idea that heterozygotes have more variable children than homozygotes. The variability in a set of sibs is therefore partitioned into components from the mother and father, using a least squares technique; a large component indicates a probably ...
C A, Smith, D Z, Loesch, A, Bener
openaire   +2 more sources

HETEROZYGOSIS IN MAN AS THE SUPPOSED GENETICAL BASIS OF INCLINATION TO TUBERCULOSIS

Acta Zoologica, 1923
G. Bonnier
semanticscholar   +2 more sources

A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree

Acta Haematologica, 2020
Background: Mutations in the F10-coding gene can cause factor X (FX) deficiency, leading to abnormal coagulation activity and severe tendency for hemorrhage.
Song-song Lu, Weicheng Lin, Huijuan Ji, M. Su, Xiaotao Zhao, Chengbin Wang   +5 more
semanticscholar   +1 more source

Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.

Journal of Clinical Lipidology
BACKGROUND Sitosterolemia is a rare autosomal recessive disease characterized by elevated phytosterol levels in the bloodstream and tissues due to increased absorption and reduced biliary excretion.
Jean G V Coutinho, Ana C S Costa, Milka M M Issa, Neiva P. Paim, Elisangela P S Quedas, V. S. Nunes, Alexander A. L. Jorge, E. R. Nakandakare, Alexandre JF Carrilho   +8 more
semanticscholar   +1 more source

Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel.

American Journal of Physiology - Cell Physiology
K+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal
Erwin Vera, I. Cornejo, Juan Carlos Henao, Felipe Tribiños, Johanna Burgos, Francisco V. Sepúlveda, L. P. Cid   +6 more
semanticscholar   +1 more source