Matches in SemOpenAlex for { <https://semopenalex.org/work/W2800303642> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W2800303642 abstract "METHODOLOGY: All patients underwent a thorough ophthalmologicalexamination after obtaining a detailed family history with custom designedquestionnaire. On securing informed consent, the blood samples were collectedfrom probands and their available family members and subjected to DNAanalysis. DNA was isolated using Phenol-Chloroform-iso amyl alcohol methodand amplified using polymerase chain reaction. Purified PCR product was thendirectly sequenced using forward primer. The sequences were aligned forhomology with their respective reference sequences using NCBI BLASTN andanalysed for probable sequence variations.RESULTS: A total of 35 subjects were included in this study. Majority of theprobands were females in the age group of 50-70 years. DNA analysis was donewhich showed exonic variations in six of the probands of which three hadvariations in exon 1, two in exon 3 and one had in both exon 1 and exon 3. Allthese exonic variations were found to be heterozygous except two that werehomozygous. The proband DKEG12A had four exonic variations one in exon 1viz., R76K which was homozygous and other three were in exon 3 as T325M ,L349L, R470R all were heterozygous. The change T325M is a novel variation.The proband DKEG11A had Q368X in heterozygous state which is a truncatedmutation. Intronic variations were noted in proband DKEG3A, DKEG4A,DKEG5A, DKEG7A, DKEG9A, DKEG10A, and DKEG12A of which some ofthem were homozygous and some were of heterozygous.CONCLUSION: The truncated mutation Q368X has been found for the firsttime in south Indian population, though previous studies have documented thismutation in western as well as in north Indian population. Two novelsynonymous variations L349L, R470R are being documented for the first timeto be in association with glaucoma. The novel variation T325M has to befunctionally characterised. Thus molecular screening may open an excitingfrontier in the future to aid in early diagnosis and treatment of glaucoma." @default.
- W2800303642 created "2018-05-17" @default.
- W2800303642 creator A5021691042 @default.
- W2800303642 date "2014-04-01" @default.
- W2800303642 modified "2023-09-26" @default.
- W2800303642 title "Molecular screening of myocilin gene in patients with positivefamily history of glaucoma." @default.
- W2800303642 hasPublicationYear "2014" @default.
- W2800303642 type Work @default.
- W2800303642 sameAs 2800303642 @default.
- W2800303642 citedByCount "0" @default.
- W2800303642 crossrefType "dissertation" @default.
- W2800303642 hasAuthorship W2800303642A5021691042 @default.
- W2800303642 hasConcept C104317684 @default.
- W2800303642 hasConcept C118487528 @default.
- W2800303642 hasConcept C153911025 @default.
- W2800303642 hasConcept C188997412 @default.
- W2800303642 hasConcept C2778527774 @default.
- W2800303642 hasConcept C2781147369 @default.
- W2800303642 hasConcept C2908647359 @default.
- W2800303642 hasConcept C2991803831 @default.
- W2800303642 hasConcept C36823959 @default.
- W2800303642 hasConcept C49105822 @default.
- W2800303642 hasConcept C501734568 @default.
- W2800303642 hasConcept C54355233 @default.
- W2800303642 hasConcept C71924100 @default.
- W2800303642 hasConcept C76818968 @default.
- W2800303642 hasConcept C86803240 @default.
- W2800303642 hasConcept C99454951 @default.
- W2800303642 hasConceptScore W2800303642C104317684 @default.
- W2800303642 hasConceptScore W2800303642C118487528 @default.
- W2800303642 hasConceptScore W2800303642C153911025 @default.
- W2800303642 hasConceptScore W2800303642C188997412 @default.
- W2800303642 hasConceptScore W2800303642C2778527774 @default.
- W2800303642 hasConceptScore W2800303642C2781147369 @default.
- W2800303642 hasConceptScore W2800303642C2908647359 @default.
- W2800303642 hasConceptScore W2800303642C2991803831 @default.
- W2800303642 hasConceptScore W2800303642C36823959 @default.
- W2800303642 hasConceptScore W2800303642C49105822 @default.
- W2800303642 hasConceptScore W2800303642C501734568 @default.
- W2800303642 hasConceptScore W2800303642C54355233 @default.
- W2800303642 hasConceptScore W2800303642C71924100 @default.
- W2800303642 hasConceptScore W2800303642C76818968 @default.
- W2800303642 hasConceptScore W2800303642C86803240 @default.
- W2800303642 hasConceptScore W2800303642C99454951 @default.
- W2800303642 hasLocation W28003036421 @default.
- W2800303642 hasOpenAccess W2800303642 @default.
- W2800303642 hasPrimaryLocation W28003036421 @default.
- W2800303642 hasRelatedWork W1498435823 @default.
- W2800303642 hasRelatedWork W1736452538 @default.
- W2800303642 hasRelatedWork W1981720564 @default.
- W2800303642 hasRelatedWork W1982561532 @default.
- W2800303642 hasRelatedWork W1994413327 @default.
- W2800303642 hasRelatedWork W2050786583 @default.
- W2800303642 hasRelatedWork W2054602248 @default.
- W2800303642 hasRelatedWork W2154424884 @default.
- W2800303642 hasRelatedWork W2370484967 @default.
- W2800303642 hasRelatedWork W2385180587 @default.
- W2800303642 hasRelatedWork W2413006638 @default.
- W2800303642 hasRelatedWork W2415885948 @default.
- W2800303642 hasRelatedWork W2415962688 @default.
- W2800303642 hasRelatedWork W2419661787 @default.
- W2800303642 hasRelatedWork W2512384711 @default.
- W2800303642 hasRelatedWork W2809653825 @default.
- W2800303642 hasRelatedWork W2981738572 @default.
- W2800303642 hasRelatedWork W3030037430 @default.
- W2800303642 hasRelatedWork W3031526139 @default.
- W2800303642 hasRelatedWork W3032044879 @default.
- W2800303642 isParatext "false" @default.
- W2800303642 isRetracted "false" @default.
- W2800303642 magId "2800303642" @default.
- W2800303642 workType "dissertation" @default.