LitCoin-sentences  

PubMed:16849419 JSONTXT 26 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue
T1 0-101 Sentence denotes Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.
T2 102-110 Sentence denotes CONTEXT:
T3 111-352 Sentence denotes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia and rickets/osteomalacia with increased serum 1,25-dihydroxyvitamin D [1,25-(OH)(2)D] resulting in hypercalciuria.
T4 353-363 Sentence denotes OBJECTIVE:
T5 364-532 Sentence denotes Our objective was to determine whether mutations in the SLC34A3 gene, which encodes sodium-phosphate cotransporter type IIc, are responsible for the occurrence of HHRH.
T6 533-552 Sentence denotes DESIGN AND SETTING:
T7 553-689 Sentence denotes Mutation analysis of exons and adjacent introns in the SLC34A3 gene was conducted at an academic research laboratory and medical center.
T8 690-721 Sentence denotes PATIENTS OR OTHER PARTICIPANTS:
T9 722-792 Sentence denotes Members of two unrelated families with HHRH participated in the study.
T10 793-801 Sentence denotes RESULTS:
T11 802-888 Sentence denotes Two affected siblings in one family were homozygous for a 101-bp deletion in intron 9.
T12 889-1001 Sentence denotes Haplotype analysis of the SLC34A3 locus in the family showed that the two deletions are on different haplotypes.
T13 1002-1158 Sentence denotes An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7.
T14 1159-1272 Sentence denotes The intron 9 deletion (and likely the other two mutations) identified in this study causes aberrant RNA splicing.
T15 1273-1378 Sentence denotes Sequence analysis of the deleted regions revealed the presence of direct repeats of homologous sequences.
T16 1379-1449 Sentence denotes CONCLUSION: HHRH is caused by biallelic mutations in the SLC34A3 gene.
T17 1450-1530 Sentence denotes Haplotype analysis suggests that the two intron 9 deletions arose independently.
T18 1531-1724 Sentence denotes The identification of three independent deletions in introns 9 and 10 suggests that the SLC34A3 gene may be susceptible to unequal crossing over because of sequence misalignment during meiosis.