Results 11 to 20 of about 3,708 (168)
Heterozygosis for hemoglobin Porto Alegre identified by a combination of laboratory diagnostic methodologies [PDF]
Revista Brasileira de Hematologia e Hemoterapia, 2012 Hemoglobin (Hb) Porto Alegre is a beta globin chain mutant [beta 9 (A6) Ser>Cys] that was initially described in a Caucasian Brazilian family in 1963(1). It was subsequentlyidentified in other families in Brazil and in other places such as Cuba and the Canary Islands.
Marcos José Cataldo +2 more
doaj +5 more sources
Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles [PDF]
ChildrenGJB2 mutations are the most common cause of autosomal-recessive non-syndromic sensorineural hearing loss (SNHL). The available evidence shows large phenotypic variability across different genotypes and allelic variants.
Leonardo Franz +11 more
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Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report [PDF]
BiomedicinesThe glycosylphosphatidylinositol (GPI) is a glycol–lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and ...
Francesco Dellepiane +8 more
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RECOMBINATION IN PHAGE T2: ITS RELATIONSHIP TO HETEROZYGOSIS AND GROWTH [PDF]
Genetics, 1954 C Levinthal
exaly +3 more sources
EFFECTS OF EGG SIZE AND HETEROZYGOSIS ON EMBRYONIC GROWTH AND HATCHING SPEED [PDF]
Genetics, 1971 A W Nordskog
exaly +3 more sources
Horticulturae, 2022 The quantitative study of genetic diversity requires tools to describe quantitatively and in parallel the whole phenotypic diversity in order to produce meaningful comparisons.
Diego Rivera +3 more
doaj +1 more source
Vaccines, 2021 This paper aims at retrospectively re-analyzing the different distribution, between males and females, in the allelic frequency of the human β T cell receptor (TCR β) single nucleotide polymorphism (SNPs) rs1800907 in Caucasian patients in the Milan ...
Elena M. Varoni +6 more
doaj +1 more source
New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease
European Journal of Case Reports in Internal Medicine, 2022 We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene.
Marcus Villander Barros de Oliveira Sá +5 more
doaj +1 more source
Diversity Analysis and Genetic Relationships among Local Brazilian Goat Breeds Using SSR Markers
Animals, 2020 The genetic diversity of six Brazilian native goats was reported using molecular markers. Hair samples of 332 animals were collected from different goat breeds (Moxotó, Canindé, Serrana Azul, Marota, Repartida, and Graúna) from five states of Northeast ...
Marcos Paulo Carrera Menezes +7 more
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