DO CONSANGUINEOUS PARENTS OF A CHILD AFFECTED BY AN AUTOSOMAL RECESSIVE DISEASE HAVE MORE DNA IDENTICAL-BY-DESCENT THAN SIMILARLY-RELATED PARENTS WITH HEALTHY OFFSPRING? DESIGN OF A CASE-CONTROL STUDY

Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study

Abstract Background The offspring of consanguineous relations have an increased risk of congenital/genetic disorders and early mortality.Consanguineous couples and their offspring account for approximately 10% of the global population.The increased risk for congenital/genetic disorders is most marked for autosomal recessive disorders and depends on

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The opposite effect of human leukocyte antigen genotypes in sarcoidosis and tuberculosis: a narrative review of the literature

Sarcoidosis and tuberculosis share several similar clinical and pathogenic characteristics that make some researchers consider a common pathogenesis for these diseases.Human leukocyte antigen (HLA) genotypes are studied both in sarcoidosis and tuberculosis patients, but to our knowledge, there are no comparative studies of miller multimatic 255 tig

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Variants of the industrially relevant protease KP-43 with suppressed activity under alkaline conditions developed using expanded genetic codes

In the present study, we attempted to control the pH profile of the catalytic activity of the industrially relevant alkaline protease KP-43, by incorporating 3-nitro-l-tyrosine and 3-chloro-l-tyrosine at and near the catalytic site.Thirty KP-43 variants containing these non-natural amino acids at the specific positions were synthesized in Escherich

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Diagnosis and treatment of anterior uveitis: optometric management

Jennifer S Harthan,1 Dominick L Opitz,2 Stephanie R Fromstein,1 Christina E Morettin3 1Cornea Center for Clinical Experience, 2Ophthalmology Services and Practice Development, 3Urgent Eye Care Service, Illinois College of Optometry, Chicago, IL, USA Abstract: Anterior uveitis encompasses inflammation of the iris and/or ciliary body and is one of th

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