Inherited colour vision deficiencies: From Dalton to molecular genetics
نویسندگان
چکیده
منابع مشابه
Molecular genetics of colour vision deficiencies.
Common variation in colour vision exists among both colour normal and colour deficient subjects. Differences at a few amino acid positions that influence the spectra of the L and M cone pigments account for most of this variation. The genes encoding the L and M photopigments are arranged in head-to-tail arrays on the X-chromosome, beginning with the L and followed by one or more M pigment genes...
متن کاملMolecular genetics of inherited antithrombin III deficiencies.
The cloning of antithrombin III (ATIII) complementary deoxyribonucleic acids and the determination of the ATIII gene structure have permitted a systematic evaluation of the molecular basis for inherited ATIII deficiencies. Sixteen kindreds with the most common form of the deficiency, in which plasma ATIII antigen levels and activity are proportionately reduced, were studied. Two polymorphic deo...
متن کاملColour vision deficiencies in Alzheimer's disease.
OBJECTIVE visual disorders are among the earliest symptoms of Alzheimer's disease. It is, however, still controversial as to whether Alzheimer's disease impairs colour vision. In this study, colour vision of Alzheimer's disease patients was tested using the Ishihara test and the PV-16 choice test. The latter test, primarily designed for children, was chosen in order to avoid problems due to cog...
متن کاملMolecular genetics of inherited eye disorders.
In the past 10 y, there have been considerable advances in the mapping, isolation, and characterization of many genes for important ocular conditions: retinitis pigmentosa, Norrie disease, Waardenburg syndrome, choroideremia, aniridia, retinoblastoma, and others. The candidate gene approach has now supplemented classical linkage studies and positional cloning in the investigation of ocular diso...
متن کاملPneumoviruses: Molecular Genetics and Reverse Genetics
Pneumoviruses are responsible for significant respiratory disease in their hosts and represent a major problemfor human and animal health. Pneumoviruses are members of the family Paramyxoviridae, subfamilyPneumovirinae and the virus particles consist of a negative-sense, nonsegmented RNA genome within a helical nucleocapsid structure enveloped in a lipid membrane derived from the ho...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Srpski arhiv za celokupno lekarstvo
سال: 2005
ISSN: 0370-8179,2406-0895
DOI: 10.2298/sarh0512521c