LitCoin-sentences  

PubMed:18945288 JSONTXT 25 Projects

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Id Subject Object Predicate Lexical cue
T1 0-72 Sentence denotes R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.
T2 73-217 Sentence denotes This study was conducted to determine the prevalence of alkaptonuria in the UAE population and to identify the genotype of affected individuals.
T3 218-402 Sentence denotes In a 3 stage sampling technique 2981 pupils from Government schools in Al Ain and private schools in Dubai were selected to take part in the study, of whom 2857 provided urine samples.
T4 403-494 Sentence denotes Urine collected was analysed for homogentisic acid by gas chromatography-mass spectrometry.
T5 495-631 Sentence denotes Genomic DNA was isolated from the white blood cells of all family members of the affected case following standard established protocols.
T6 632-780 Sentence denotes Specific PRC primers were designed to amplify all 14 exons of the HGD gene with the flanking intronic sequences including the splice site sequences.
T7 781-882 Sentence denotes 2857 children returned a viable urine sample, of which one was highly positive for homogentisic acid.
T8 883-990 Sentence denotes All 12 members of this girl's family were studied and one, a 22 year old brother, was found to excrete HGA.
T9 991-1080 Sentence denotes Another, a sister who had not provided a urine sample, was discovered by genetic testing.
T10 1081-1167 Sentence denotes There were no complaints of joint pain or other symptoms in any member of this family.
T11 1168-1195 Sentence denotes Parents were first cousins.
T12 1196-1344 Sentence denotes We found a single nucleotide deletion c.342delA, located in exon 3, which resulted in a frameshift at amino acid position 58 (p.Arg58fs or p.R58fs).
T13 1345-1474 Sentence denotes Alkaptonuria may be more common than it is thought to be with an allele prevalence estimated at 0.0107 (95% CI 0.000392-0.03473).
T14 1475-1600 Sentence denotes The R58fs mutation is old, perhaps having occurred several thousand years ago, and has spread over a large geographical area.