Results 161 to 170 of about 2,863,419 (210)
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Molecular genetics of antithrombin deficiency
Blood Reviews, 1996Antithrombin is the major proteinase inhibitor of thrombin and other blood coagulation proteinases. Antithrombin has two functional domains, a heparin binding site and a reactive centre (that complexes and inactivates the proteinase). Its deficiency results in an increased risk of venous thromboembolism.
D A, Lane +3 more
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Immunoglobulin A deficiency: genetic studies
Tissue Antigens, 1982Immunoglobulin A (IgA) deficiency (<0.01 mg/ml) was demonstrated in 155 of 72,296 blood donors. Studies of families of 60 donors revealed IgA deficiency in other members of 12 families. No consistent pattern of inheritance of IgA deficiency was found.
K, Oen, R E, Petty, M L, Schroeder
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Genetics and Limb Deficiencies
Clinical Orthopaedics and Related Research, 1980The majority of cases of limb deficiencies are sporadic with no recurrence risk. This is particularly true for terminal transverse defects. Some terminal transverse defects, such as acheiropody, however, are part of genetic syndromes. There is a variety of radial defects, some of them autosomal dominant, some autosomal recessive, some due to ...
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Genetics of Primary CoQ10 Deficiency
Current Genomics, 2006Coenzyme Q (CoQ) is a lipophilic component of the mitochondrial respiratory enzyme chain, which transfers electrons to complex III (cytochrome bc complex) from complex I (NADH-CoQ reductase), complex II (succinate dehydrogenase), and from the oxidation of fatty acids and branched-chain amino acids via flavin-linked dehydrogenases.
Naini, Ali +4 more
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Genetics of Growth Hormone Deficiency
Endocrinology and Metabolism Clinics of North America, 2007When a child is not following the normal, predicted growth curve, an evaluation for underlying illness and central nervous system abnormalities is required and appropriate consideration should be given to genetic defects causing growth hormone (GH) deficiency.
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Genetics of Color Vision Deficiencies
2003The normal X-chromosome-linked color vision gene array is composed of a single red pigment gene followed by one or more green pigment genes. The high degree of homology between these genes predisposed them to unequal recombination, leading to gene deletions or the formation of red-green hybrid genes that explain the majority of the common red-green ...
Samir S, Deeb, Susanne, Kohl
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Genetics of molybdenum cofactor deficiency
Human Genetics, 2000Molybdenum cofactor (MoCo) deficiency leads to a combined deficiency of the molybdoenzymes sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase. Effective therapy is not available for this rare disease, which results in neonatal seizures and other neurological symptoms identical to those of sulphite oxidase deficiency.
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1988
Barr et al (1) were the first investigators to document a relationship between decreased high density lipoprotein (HDL) cholesterol concentrations and coronary artery disease (CAD). Subsequently in 1966 Gofman et al. in a prospective study (2) found a similar association of plasma HDL levels with disease.
J M, Ordovas, D C, King, E J, Schaefer
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Barr et al (1) were the first investigators to document a relationship between decreased high density lipoprotein (HDL) cholesterol concentrations and coronary artery disease (CAD). Subsequently in 1966 Gofman et al. in a prospective study (2) found a similar association of plasma HDL levels with disease.
J M, Ordovas, D C, King, E J, Schaefer
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Molecular genetics of peroxidase deficiency
Journal of Molecular Medicine, 1998Myeloperoxidase (MPO) belongs to a family of related proteins which also includes eosinophil, thyroid, and lactoperoxidase. The MPO gene is a 14-kb gene located on the long arm of chromosome 17. Thus far four mutations (R569W, Y173C, M251T and a 14-base deletion in exon 9) have been identified in patients with MPO deficiency.
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Genetic heterogeneity in human neuraminidase deficiency
Nature, 1980There is a deficiency of human alpha-N-acetylneuraminidase in several inherited diseases. In patients with mucolipidosis I (refs 1,2) and in adults with a variant form with out bony abnormalities and mental retardation, both also classified as sialidoses, it is the only deficient enzyme.
A T, Hoogeveen +3 more
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