منابع مشابه
A Pedigree with Atypical Total Colour Blindness
THERE exist rare cases of monochromatism in which the characteristic symptoms accompanying typical total colour blindness are lacking. In such cases visual acuity is normal, nystagmus and photophobia are absent, the pupillary reactions are normal, the macula lutea exhibits no ophthalmoscopic anomalies, and the luminosity curve is not scotopic. It has often been supposed that cone function is ab...
متن کاملMixtures with relatives: a pedigree perspective.
DNA mixture evidence pertains to cases where several individuals may have contributed to a biological stain. Statistical methods and software for such problems are available and a large number of cases can be handled adequately. However, one class of mixture problems remains untreated in full generality in the literature, namely when the contributors may be related. Disregarding a plausible clo...
متن کاملA novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease
Introduction Autoinflammatory disorders (AID) are characterized by chronic or recurrent systemic inflammation associated with various clinical presentations. It is a genetically heterogeneous group of diseases. Recently, gain of function mutations in NLRC4 have been described to be associated with autoinflammatory disease. Here, we report a novel NLRC4 mutation in a large pedigree with an anaki...
متن کاملChecking Pedigree Consistency with PCS
Many important problems in bioinformatics and genetics require analyses that are NP-complete. For example, one of the basic problems facing researchers that analyze pedigrees—data that represents relationships and genetic traits of a set of individuals—is evaluating whether they are consistent with the Mendelian laws of inheritance. This problem is NP-complete and several specialized algorithms...
متن کاملA likelihood-based procedure for obtaining confidence intervals of disease loci with general pedigree data
We proposed a confidence interval method for disease gene localization by testing every position on each chromosome of interest for its possibility of being a disease locus and including those not rejected into the interval. Three test statistics were proposed to perform the tests, including one based on LOD and two generalized likelihood ratio tests with or without model averaging (GLRT/MA and...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 1975
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.64.475