General mutation databases: analysis and review
نویسندگان
چکیده
منابع مشابه
General mutation databases: analysis and review.
Databases of mutations causing Mendelian disease play a crucial role in research, diagnostic and genetic health care and can play a role in life and death decisions. These databases are thus heavily used, but only gene or locus specific databases have been previously reviewed for completeness, accuracy, currency and utility. We have performed a review of the various general mutation databases t...
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PAHdb (http://www.mcgill.ca/pahdb ) is a curated relational database (Fig. 1) of nucleotide variation in the human PAH cDNA (GenBank U49897). Among 328 different mutations by state (Fig. 2) the majority are rare mutations causing hyperphenylalaninemia (HPA) (OMIM 261600), the remainder are polymorphic variants without apparent effect on phenotype. PAHdb modules contain mutations, polymorphic ha...
متن کاملTime for a unified system of mutation description and reporting: a review of locus-specific mutation databases.
Mutation databases of human genes are assuming an increasing importance in all areas of health care. In addition, more and more experts in the mutations and diseases of particular genes are curating published and unpublished mutations in locus-specific databases (LSDB). These databases contain such extensive information that they have become known as knowledge bases. We analyzed these databases...
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the present study reports an analysis of response articles in four different disciplines in the social sciences, i.e., linguistics, english for specific purposes (esp), accounting, and psychology. the study has three phases: micro analysis, macro analysis, and e-mail interview. the results of the micro analysis indicate that a three-level linguistic pattern is used by the writers in order to cr...
15 صفحه اولComparison of airway complications following deep and awake extubation in children under general anesthesia: a systematic review and meta-analysis
Introduction: Considering that the complications of extubation in children are much more and more dangerous than in adults and there is no comprehensive and sufficient data that can be cited based on the studies conducted, the present study aims to compare airway complications Two methods of deep and awake extubation were performed in children under general anesthesia. Methods: This systemati...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2007
ISSN: 1468-6244
DOI: 10.1136/jmg.2007.052639