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PubMed:8240110 JSONTXT 15 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-180 Sentence denotes Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.
T1 0-180 Sentence denotes Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.
TextSentencer_T2 181-207 Sentence denotes BACKGROUND AND OBJECTIVES:
T2 181-207 Sentence denotes BACKGROUND AND OBJECTIVES:
TextSentencer_T3 208-368 Sentence denotes Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens.
T3 208-368 Sentence denotes Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens.
TextSentencer_T4 369-534 Sentence denotes We report herein the occurrence of three separate phenotypes within a single family with a novel 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene.
T4 369-534 Sentence denotes We report herein the occurrence of three separate phenotypes within a single family with a novel 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene.
TextSentencer_T5 535-542 Sentence denotes DESIGN:
T5 535-542 Sentence denotes DESIGN:
TextSentencer_T6 543-677 Sentence denotes Case reports with clinical features, fluorescein angiography, kinetic perimetry, electrophysiological studies, and molecular genetics.
T6 543-677 Sentence denotes Case reports with clinical features, fluorescein angiography, kinetic perimetry, electrophysiological studies, and molecular genetics.
TextSentencer_T7 678-686 Sentence denotes SETTING:
T7 678-686 Sentence denotes SETTING:
TextSentencer_T8 687-714 Sentence denotes University medical centers.
T8 687-714 Sentence denotes University medical centers.
TextSentencer_T9 715-724 Sentence denotes PATIENTS:
T9 715-724 Sentence denotes PATIENTS:
TextSentencer_T10 725-925 Sentence denotes A 75-year-old woman, her two daughters (aged 44 and 50 years), and her 49-year-old son were screened for peripherin/RDS mutations because of the presence of multiple phenotypes within the same family.
T10 725-925 Sentence denotes A 75-year-old woman, her two daughters (aged 44 and 50 years), and her 49-year-old son were screened for peripherin/RDS mutations because of the presence of multiple phenotypes within the same family.
TextSentencer_T11 926-934 Sentence denotes RESULTS:
T11 926-934 Sentence denotes RESULTS:
TextSentencer_T12 935-1148 Sentence denotes The mother presented at age 63 years with a profoundly abnormal electroretinogram (ERG) and adult-onset retinitis pigmentosa that progressed dramatically over 12 years, with marked loss of peripheral visual field.
T12 935-1148 Sentence denotes The mother presented at age 63 years with a profoundly abnormal electroretinogram (ERG) and adult-onset retinitis pigmentosa that progressed dramatically over 12 years, with marked loss of peripheral visual field.
TextSentencer_T13 1149-1214 Sentence denotes One daughter developed pattern macular dystrophy at age 31 years.
T13 1149-1214 Sentence denotes One daughter developed pattern macular dystrophy at age 31 years.
TextSentencer_T14 1215-1315 Sentence denotes At age 44 years, her ERG was moderately abnormal but her clinical disease was limited to the macula.
T14 1215-1315 Sentence denotes At age 44 years, her ERG was moderately abnormal but her clinical disease was limited to the macula.
TextSentencer_T15 1316-1459 Sentence denotes Another daughter presented at age 42 years with macular degeneration and over 10 years developed the clinical picture of fundus flavimaculatus.
T15 1316-1459 Sentence denotes Another daughter presented at age 42 years with macular degeneration and over 10 years developed the clinical picture of fundus flavimaculatus.
TextSentencer_T16 1460-1538 Sentence denotes Her peripheral visual field was preserved but her ERG was moderately abnormal.
T16 1460-1538 Sentence denotes Her peripheral visual field was preserved but her ERG was moderately abnormal.
TextSentencer_T17 1539-1597 Sentence denotes The son had onset of macular degeneration at age 44 years.
T17 1539-1597 Sentence denotes The son had onset of macular degeneration at age 44 years.
TextSentencer_T18 1598-1666 Sentence denotes Pericentral scotomas were present and the ERG was markedly abnormal.
T18 1598-1666 Sentence denotes Pericentral scotomas were present and the ERG was markedly abnormal.
TextSentencer_T19 1667-1749 Sentence denotes Fluorescein angiography revealed punctate pigment epithelial transmission defects.
T19 1667-1749 Sentence denotes Fluorescein angiography revealed punctate pigment epithelial transmission defects.
TextSentencer_T20 1750-1762 Sentence denotes CONCLUSIONS:
T20 1750-1762 Sentence denotes CONCLUSIONS:
TextSentencer_T21 1763-1905 Sentence denotes A 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene can produce clinically disparate phenotypes even within the same family.
T21 1763-1905 Sentence denotes A 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene can produce clinically disparate phenotypes even within the same family.